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1.
Clin Genet ; 90(4): 334-42, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-26970110

RESUMEN

Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients with ECCL have been reported. Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. Here we report the results of molecular genetic studies in three patients with OES and one with ECCL. In all four cases, Sanger sequencing of the KRAS gene in DNA from lesional tissue detected mutations affecting codon 146 (p.Ala146Val, p.Ala146Thr) at variable levels of mosaicism. Our findings thus corroborate the evidence of OES being a mosaic RASopathy and confirm the common etiology of OES and ECCL. KRAS codon 146 mutations, as well as the previously reported OES-associated alterations, are known oncogenic KRAS mutations with distinct functional consequences. Considering the phenotype and genotype spectrum of mosaic RASopathies, these findings suggest that the wide phenotypic variability does not only depend on the tissue distribution but also on the specific genotype.


Asunto(s)
Quiste Dermoide/genética , Displasia Ectodérmica/genética , Oftalmopatías/genética , Predisposición Genética a la Enfermedad , Lipomatosis/genética , Síndromes Neurocutáneos/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Niño , Preescolar , Codón , Quiste Dermoide/patología , Displasia Ectodérmica/patología , Oftalmopatías/patología , Humanos , Lactante , Lipomatosis/patología , Síndromes Neurocutáneos/patología
2.
Genet Couns ; 27(3): 385-392, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-30204968

RESUMEN

Some of the disorders of sex development (DSD), including 46, XX testicular DSD formerly called "XX maleness" and 46, XY DSD with partial or complete gonadal dysgenesis primarily affect the gonads. Genetic alterations in ten unrelated females with complete 46, XY gonadal dysgenesis (GD) were analyzed using an Array 2.7 M platform with whole genome coverage. The analysis result suggested that the most significant region maps to chromosome 8q24.3 which were previously reported by another independent study with a similar patient cohort and this region being probable candidate related to complete 46, XY GD.


Asunto(s)
Duplicación Cromosómica/genética , Cromosomas Humanos Par 8/genética , Trastornos del Desarrollo Sexual/genética , Disgenesia Gonadal 46 XY/genética , Testículo/anomalías , Mapeo Cromosómico , Estudios de Cohortes , Hibridación Genómica Comparativa , Trastornos del Desarrollo Sexual/diagnóstico , Femenino , Estudio de Asociación del Genoma Completo , Disgenesia Gonadal 46 XY/diagnóstico , Humanos , Cariotipificación , Polimorfismo Genético/genética , Turquía
3.
Genet Couns ; 27(3): 405-410, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-30204971

RESUMEN

Matthew-Wood syndrome (MWS), also termed Microphthalmia, syndrome 9 (MCOPS9, MIM 601186), Spear syndrome, or pulmonary hypoplasia, diaphragmatic hernia, anophthalmia and cardiac defects syndrome (PDAC syndrome), is an autosomal recessive disorder characterised by ocular, respiratory and cardiac abnormalities. Mutations in retinoic acid 6 gene (STRA6) have been reported in clinically diagnosed patients with MWS. Here we presented a case with MWS, who has characteristic findings of the syndrome as well as dextrocardia as an undescribed feature, and bilateral streak gonads which was described only in one patient previously. Molecular analysis showed a homozygous exonic missense mutation in the STRA6 gene.


Asunto(s)
Anoftalmos/genética , Dextrocardia/genética , Disgenesia Gonadal/genética , Enfermedades Pulmonares/genética , Proteínas de la Membrana/genética , Microftalmía/genética , Mutación Missense/genética , Anoftalmos/diagnóstico , Consanguinidad , Dextrocardia/diagnóstico , Exones/genética , Femenino , Disgenesia Gonadal/diagnóstico , Homocigoto , Humanos , Recién Nacido , Enfermedades Pulmonares/diagnóstico , Microftalmía/diagnóstico , Linaje , Embarazo , Mortinato
4.
Genet Couns ; 27(3): 411-418, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-30204972

RESUMEN

Wolcott-Rallison Syndrome (WRS), also known as Multiple Epiphyseal Dysplasia with Early-onset Diabetes Mellitus is a rare autosomal recessive multisystemic disorder. Its characteristic clinical features are permanent neonatal or early infancy insulin-dependent diabetes and later onset skeletal dysplasia. Other frequent clinical manifestations are hepatic and renal dysfunction, mental retardation, cardiac abnormalities, exocrine pancreatic dysfunction, primary hypothyroidism and neutropenia. This report presents an 8-year-old WRS case who is found to have W522X mutation in EIF2AK3 gene which was only found in two other unrelated Turkish families. W522X mutation in EIF2AK3 gene seems to be confined to Turkey and may be a common mutation in WRS patients from this country. In this paper, we evaluate the clinical features of the patients having W522X mutation and we compare this group with other patients reported to date. Except the characteristic features as diabetes mellitus and epiphyseal dysplasia, all the WRS patients, including patients with W522X mutation, show extensive phenotypic variability that correlates poorly to genotype which suggests that there is no correlation between a specific mutation and the clinical manifestation.


Asunto(s)
Análisis Mutacional de ADN , Diabetes Mellitus Tipo 1/genética , Epífisis/anomalías , Genotipo , Osteocondrodisplasias/genética , Fenotipo , eIF-2 Quinasa/genética , Niño , Aberraciones Cromosómicas , Codón sin Sentido/genética , Consanguinidad , Diabetes Mellitus Tipo 1/diagnóstico , Femenino , Genes Recesivos , Homocigoto , Humanos , Intrones/genética , Osteocondrodisplasias/diagnóstico , Análisis de Secuencia de ADN , Turquía
5.
Genet Couns ; 27(4): 471-478, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-30226965

RESUMEN

Rett syndrome (RTT) and Angelman syndrome (AS) are devastating neurological disorders that participate in overlapping clinical features with autism spectrum disorders (ASDs). It has been reported that in addition to common mutations or deletions, individuals with chromosomal duplications including either the MECP2 or UBE3A loci show clinical features related to those of MECP2 duplication syndrome, AS, or ASDs. Here we report a 10-year--10-months old male patient having overlapping clinical features of MECP2 duplication syndrome, AS and ASDs. He had mental retardation, lack of speech and developmental delay, and also dysmorphic features such as plagiocephaly, retrognathia, hyperextensible joints in fingers and elbows, broad great toe and three different sizes of cafe au laits. The X-ray revealed compound craniosynostosis and the cranial MRI at 10 years showed delayed myclination. Due to his clinical features, we performed molecular karyotyping and found numerous genomic alterations. Two of these genomic alterations including duplications of chromosome Xq28 and 15qll.2ql3.l1 were found to be compatible with his clinical findings. According to methylation analysis, duplicated UBE3A gene found to be not methylated. The present case study may contribute to a better definition and an improved comprehension of the overlapping pathways of MECP2 and UBE3A.


Asunto(s)
Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Discapacidad Intelectual Ligada al Cromosoma X/genética , Síndrome de Angelman/complicaciones , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/genética , Encéfalo/patología , Niño , Cromosomas Humanos Par 15/genética , Cromosomas Humanos X/genética , Anomalías Craneofaciales/complicaciones , Anomalías Craneofaciales/genética , Craneosinostosis/complicaciones , Craneosinostosis/diagnóstico , Craneosinostosis/genética , Diagnóstico Diferencial , Humanos , Cariotipificación , Imagen por Resonancia Magnética , Masculino , Discapacidad Intelectual Ligada al Cromosoma X/complicaciones , Metilación , Fibras Nerviosas Mielínicas/patología , Ubiquitina-Proteína Ligasas/genética
6.
Genet Couns ; 26(4): 401-7, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26852510

RESUMEN

Chromosomal deletions and/or duplications are relatively common cytogenetic abnormalities. Clinical findings depend on pure or complex forms of the anomaly, the location and size. In those cases, using current analytical technologies increases the possibility of discovering candidate genes that were not detected by conventional karyotyping responsible for these features. Here, we report an 18-month-old girl with prenatal and postnatal growth retardation, secundum ASD and PDA, facial dysmorphic features including frontal bossing, arched eyebrows, hypertelorism, wide nasal bridge and chronic diarrhea. Chromosome analysis on the peripheral leukocytes showed a 46,XX del(10)(q26.3),dup(12)(q24.11-q24.33) dn karyotype. An array-CGH analysis was performed to understand which genes were located on the deletion and duplication regions and what was their relationship with the phenotype. Based on our analyses, the deletion of the CALY gene on Chromosome 10q and the duplication of PTPN11 and TBX5 genes on chromosome 12q were possibly relevant for the clinical findings with our patient.


Asunto(s)
Trisomía/genética , Deleción Cromosómica , Duplicación Cromosómica/genética , Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 12/genética , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Trisomía/diagnóstico
7.
Genet Couns ; 21(1): 9-17, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20420024

RESUMEN

Reports of abnormal karyotypes or normal 46,XY karyotypes of the abortion materials derivated from tissue cultures are mostly addressing the pregnancy loss tissues. The accuracy of the cytogenetic reports of normal 46,XX karyotypes is obscure, as the results may reflect the normal karyotyped female pregnancy losses or the hidden maternal decidual cells covering the cytogenetically normal or abnormal male or female products of conception. In the present study, thirty-eight 46,XX normal karyotyped abortion materials cultivated from villi were re-analysed for excluding maternal cell contamination by using molecular approaches in an accurate algorithm. Abortion materials DNAs were amplified by polymerase chain reaction (PCR) technique in order to search the products of the sex determinating region gene of chromosome Y (SRY). Sixteen out of 38 abortion materials revealed Y-chromosome component (42.1%). Amplification negative DNAs and their parental DNAs were genotyped by using high-polymorphic microsatellite DNA markers to identify the origin of the components of the chromosome X. Maternal chromosome X components were detected in 18 (81.8%). As a result, SRY amplifications and genotypings ascertained the high rate of maternal decidual cells in 46,XX products of conception.


Asunto(s)
Aborto Espontáneo/genética , Aberraciones Cromosómicas , Análisis Citogenético/métodos , Decidua/citología , Genes sry/genética , Células Cultivadas , Errores Diagnósticos , Femenino , Humanos , Cariotipificación , Reacción en Cadena de la Polimerasa
8.
Genet Couns ; 19(3): 287-90, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18990984

RESUMEN

Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Here we describe a male Turkish patient who has typical and less common findings of DS with additionally persistently low serum lipid levels and an arachnoid cyst. The present patient is the second case of DS with persistently low cholesterol levels.


Asunto(s)
Anomalías Múltiples/genética , Quistes Aracnoideos/genética , Colesterol/sangre , Aberraciones Cromosómicas , Enanismo/genética , Retardo del Crecimiento Fetal/genética , Genes Recesivos/genética , Errores Innatos del Metabolismo Lipídico/genética , Adolescente , Quistes Aracnoideos/diagnóstico , Bandeo Cromosómico , Consanguinidad , Enanismo/diagnóstico , Retardo del Crecimiento Fetal/diagnóstico , Humanos , Errores Innatos del Metabolismo Lipídico/diagnóstico , Masculino , Síndrome , Turquía
9.
Genet Couns ; 19(2): 193-8, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18618994

RESUMEN

Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case.


Asunto(s)
Anomalías Múltiples , Radio (Anatomía)/anomalías , Sinostosis , Cúbito/anomalías , Niño , Femenino , Antebrazo/anomalías , Humanos , Discapacidad Intelectual , Trastornos del Desarrollo del Lenguaje , Masculino , Hipotonía Muscular , Hermanos
10.
Genet Couns ; 18(3): 325-30, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-18019374

RESUMEN

Hairy Elbows Syndrome (Hypertrichosis Cubiti; OMIM# 139600) is a rare syndrome, and characterized by the presence of long vellus hair localized on the extensor surfaces of the distal third of the arms and proximal third of the forearm bilaterally. Occasionally hypertrichosis of other body regions may accompany hairy elbows. About half of the reported patients have short stature. Aside from short stature other relatively rare abnormalities related with this syndrome were also described. Most of the reported cases were sporadic, but autosomal dominant as well as autosomal recessive inheritance patterns have also been postulated. In this report, we present a girl with Hairy Elbows syndrome who has both characteristic and uncommon findings of the syndrome. She has excessive hair on her elbows, along with short stature, microcephaly, joint hyperlaxity, thin-long-webbed neck, dysmorphic facial features and mental retardation.


Asunto(s)
Hipertricosis/genética , Adulto , Determinación de la Edad por el Esqueleto , Niño , Consanguinidad , Codo , Femenino , Frecuencia de los Genes , Humanos , Hipertricosis/epidemiología , Masculino , Turquía
11.
Genet Couns ; 18(4): 393-9, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-18286820

RESUMEN

Marker or ring X chromosomes are frequently seen in Ullrich-Turner Syndrome with 46,X,r(X) karyotype, but only 8 children were reported with an extra marker X chromosome in at least some of their cell lines, we describe a 5 years old male patient who is mosaic (17%) for a cell line with an extra ring shaped marker X chromosome in addition to a normal 46,XY cell line. He had mild motor mental retardation, a dysmorphic face, dysplastic ears, high arched palate, cryptorchidism and brachydactyly. G-banding showed 46,XY[83]/47,XY,+r?[17] karyotype. NOR banding revealed no satellite region but its centromere was intact in C-banding. By fluorescent in situ hybridization (FISH) technique, dual X/Y alpha-satellite probes were used to detect the origin of ring shaped marker chromosome and 17% of his cells had two X chromosome signals due to marker X; hybridization with X chromosome inactivation center (XIST) specific probe revealed the absence of the locus on the ring chromosome. In this report, clinical features of our patient are compared with previously reported cases and the cytogenetic and molecular cytogenetic techniques used to detect origin of marker chromosome are discussed.


Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos X/genética , Preescolar , Dedos/anomalías , Marcadores Genéticos , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Cariotipificación , Masculino , ARN Largo no Codificante , ARN no Traducido/genética , Cromosomas en Anillo , Silla Turca/anomalías , Trastornos del Habla/complicaciones , Trastornos del Habla/genética
12.
Genet Couns ; 17(2): 197-204, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16970038

RESUMEN

Partial trisomy 1q including different segments of the long arm is a rare cytogenetic anomaly. Especially the cases with mosaic proximal tandem duplication of 1q included a longer fragment are very rare. Cases who have partial 1q trisomy showed large phenotypic variation due to the differences in size of the duplicated segments of 1q. The clinical phenotype of most cases is characterized by multiple congenital anomalies especially including central nervous system and developmental delay. We describe a prenatally diagnosed case with mild cerebral ventriculomegaly and karyotype with mosaic pure trisomy of chromosome 1q [(46,XX/46,XX,dup(1)(q21qter)]. Phenotypic postmortem examination showed cranial asymmetry, flat and broad nasal bridge, anteverted nostrils, hypertelorism, retrognathia, abnormal pinnae, hypoplasic thumbs, long fingers and toes, mediodorsal curvature of the 4th and 5th toes and posterior prominence of the heel was observed. Autopsy confirmed the ventriculomegaly. Postmortem chromosome preparation from skin culture, cord blood and intracardiac blood confirmed the mosaic pure trisomy of chromosome 1q.


Asunto(s)
Cromosomas Humanos Par 1/genética , Citogenética/métodos , Enfermedades Fetales/diagnóstico , Duplicación de Gen , Mosaicismo , Diagnóstico Prenatal , Trisomía/diagnóstico , Trisomía/genética , Aborto Inducido , Adulto , Aneuploidia , Autopsia , Ventrículos Cerebrales/anomalías , Ecoencefalografía , Resultado Fatal , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Imagen por Resonancia Magnética , Fenotipo
14.
Genet Couns ; 16(2): 161-5, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16080296

RESUMEN

Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly: Gingival fibromatosis is a rare and benign disorder. The enlarged gingivae are firm and may interfere with speech, closure of the lips, and mastication. We report a thirteen years old girl, with gingival fibromatosis referred to the periodontics clinics. Full mouth gingivectomy and gingivoplasty were performed. Medical investigation showed short stature, low-borderline IQ, facial dysmorphism, and hepatomegaly. Histological analysis revealed hyperplasia in the epithelial area and fibrotic appearance of gingival connective tissue with dense collagen fibre clusters. Pedigree analysis confirmed that mode of inheritance is autosomal recessive. According to the combination of clinical findings, this case report may represent a previously unreported syndrome.


Asunto(s)
Anomalías Craneofaciales/genética , Enanismo/genética , Fibromatosis Gingival/genética , Hepatomegalia/genética , Discapacidad Intelectual/genética , Inteligencia/genética , Adolescente , Aberraciones Cromosómicas , Colágeno/metabolismo , Consanguinidad , Anomalías Craneofaciales/diagnóstico , Enanismo/diagnóstico , Femenino , Fibromatosis Gingival/diagnóstico , Fibromatosis Gingival/patología , Fibromatosis Gingival/cirugía , Genes Recesivos/genética , Encía/patología , Gingivectomía , Hepatomegalia/diagnóstico , Humanos , Discapacidad Intelectual/diagnóstico , Síndrome
15.
Genet Couns ; 15(3): 363-9, 2004.
Artículo en Inglés | MEDLINE | ID: mdl-15517830

RESUMEN

We present a case with spondylo-metaphyseal dysplasia type A4 characterized by ovoid vertebral bodies with anterior tongue-like deformities, widened irregular and sclerotic metaphyseal changes, short iliac wings, slightly short long bones and short tubular bones of the hands with irregular metaphyses. She also had bipartite trochlea and irregular patellar margins, which have not been described in spondylo-metaphyseal dysplasia types to date.


Asunto(s)
Osteocondrodisplasias/clasificación , Osteocondrodisplasias/genética , Preescolar , Bandeo Cromosómico , Femenino , Glicosaminoglicanos/orina , Humanos , Ilion/anomalías , Ilion/diagnóstico por imagen , Cariotipificación , Cifosis/genética , Osteocondrodisplasias/diagnóstico por imagen , Radiografía
16.
Genet Couns ; 14(3): 313-9, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14577675

RESUMEN

Cenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand. We report here an additional case of Cenani-Lenz syndactylism in a woman who has congenital cataract and an unusual type of duplication of big toes not described so far. She had a half cousin who had an unusual new type or severe type I syndactyly. It is not clear whether these two types of syndactyly present in this family may be coincidental or not.


Asunto(s)
Sindactilia/genética , Adolescente , Adulto , Femenino , Humanos , Linaje , Índice de Severidad de la Enfermedad , Síndrome
17.
Genet Couns ; 14(4): 387-93, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14738111

RESUMEN

Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that is primarily affect metaphyses. Here we present a case with Pyle type metaphyseal dysplasia. The characteristic features of the case were metapyhseal broadening with undertubulation and Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses. There were also platyspondyly with biconcave lens appearance of the vertebral bodies, congenital hip dislocation and normal cranium. Bone histopathology showed decreased number of osteoclasts. To the best of our knowledge, this is the first reported case of Pyle type metaphyseal dysplasia from Turkey.


Asunto(s)
Anomalías Múltiples/patología , Enfermedades del Desarrollo Óseo/patología , Luxación Congénita de la Cadera , Columna Vertebral/anomalías , Anomalías Múltiples/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Preescolar , Femenino , Humanos , Radiografía , Turquía
18.
Fetal Diagn Ther ; 16(5): 308-11, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11509854

RESUMEN

We present 2 cases with Robinow syndrome in a nonconsanguineous Turkish couple. The first case, second living child of the family, has all of the cardinal features of this syndrome including short stature, mesomelic shortening of forearms, frontal bossing, hypertelorism, anteverted nares, triangular mouth, hypoplastic genitalia and vertebral and costal anomalies. The second case was diagnosed with first-trimester ultrasonographic findings such as shortening of extremities and increased nuchal translucency thickness at 12 + 4 weeks of gestation, and the family wished to terminate this pregnancy. After abortion, we obtained findings such as typical face features, shortening of forearms, ambiguous genitalia suggesting Robinow syndrome with autopsy examination.


Asunto(s)
Anomalías Craneofaciales/complicaciones , Enanismo/complicaciones , Genitales Femeninos/anomalías , Edad Gestacional , Deformidades Congénitas de las Extremidades/complicaciones , Ultrasonografía Prenatal , Adulto , Femenino , Humanos , Linaje , Embarazo , Costillas/anomalías , Columna Vertebral/anomalías , Síndrome , Turquía
19.
Nat Genet ; 25(4): 423-6, 2000 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-10932187

RESUMEN

Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and vertebral segmentation. The recessive form of Robinow syndrome (RRS; OMIM 268310), particularly frequent in Turkey, has a high incidence of abnormalities of the vertebral column such as hemivertebrae and rib fusions, which is not seen in the dominant form. Some patients have cardiac malformations or facial clefting. We have mapped a gene for RRS to 9q21-q23 in 11 families. Haplotype sharing was observed between three families from Turkey, which localized the gene to a 4. 9-cM interval. The gene ROR2, which encodes an orphan membrane-bound tyrosine kinase, maps to this region. Heterozygous (presumed gain of function) mutations in ROR2 were previously shown to cause dominant brachydactyly type B (BDB; ref. 7). In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS. We detected several homozygous ROR2 mutations in our cohort of RRS patients that are located upstream from those previously found in BDB. The ROR2 mutations present in RRS result in premature stop codons and predict nonfunctional proteins.


Asunto(s)
Anomalías Múltiples/genética , Receptores de Superficie Celular/genética , Anomalías Múltiples/patología , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Secuencia de Bases , Mapeo Cromosómico , Cromosomas Humanos Par 9/genética , ADN/química , ADN/genética , Análisis Mutacional de ADN , Cara/anomalías , Salud de la Familia , Femenino , Genes Recesivos , Genotipo , Humanos , Deformidades Congénitas de las Extremidades/genética , Masculino , Repeticiones de Microsatélite , Datos de Secuencia Molecular , Mutación , Linaje , Proteínas Tirosina Quinasas Receptoras/genética , Receptores Huérfanos Similares al Receptor Tirosina Quinasa , Eliminación de Secuencia , Homología de Secuencia de Aminoácido , Sindactilia , Síndrome
20.
Acta Orthop Belg ; 66(5): 495-8, 2000 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11196375

RESUMEN

The authors report on a child with typical Larsen's syndrome with some rare findings such as mixed-type hearing loss and with some potentially fatal operative risks including laryngomalacia and cervical instability. A few deaths with Larsen's syndrome have been reported associated with various fatal risks such as spinal instability. Therefore, laryngomalacia and several other potentially fatal risks are presented in this report as awareness may prove essential to orthopedic surgeons.


Asunto(s)
Anomalías Múltiples/cirugía , Luxación Congénita de la Cadera/complicaciones , Luxación Congénita de la Cadera/cirugía , Hipertelorismo/complicaciones , Anomalías Múltiples/diagnóstico por imagen , Preescolar , Femenino , Luxación Congénita de la Cadera/diagnóstico por imagen , Humanos , Hipertelorismo/diagnóstico por imagen , Cuidados Intraoperatorios/métodos , Radiografía , Factores de Riesgo , Síndrome
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