Assuntos
DNA Helicases , Proteínas de Ligação a DNA/química , Proteínas de Ligação a DNA/genética , Mutação , Proteínas Nucleares , Fatores de Transcrição/química , Fatores de Transcrição/genética , Sequência de Aminoácidos , Animais , Sequência Conservada , Globinas/genética , Humanos , Deficiência Intelectual/genética , Camundongos , Dados de Sequência Molecular , Fenótipo , Homologia de Sequência de Aminoácidos , Síndrome , Proteína Nuclear Ligada ao X , Dedos de Zinco/genética , Talassemia alfa/genéticaRESUMO
Limb-body wall complex is a malformation of body and limbs with craniofacial defects. We describe here the epidemiology of this complex using the population-based registry data in the Kanagawa Birth Defects Monitoring Program during the period 1982-1991. Eleven infants (11/428,599 births) with the complex were ascertained in the study. The incidence and spectrum of the defects observed in our cases were similar to those of other studies. The parental ages in the study group were not significantly different from those in the general population. No teratogenic agents and factors were identified in the present study. Most cases were diagnosed prenatally.
Assuntos
Anormalidades Múltiplas/epidemiologia , Deformidades Congênitas dos Membros , Ossos Faciais/anormalidades , Feminino , Humanos , Incidência , Recém-Nascido , Japão/epidemiologia , Masculino , Triagem Neonatal , Gravidez , Diagnóstico Pré-Natal , Sistema de Registros , Crânio/anormalidadesRESUMO
Apple peel intestinal atresia is an apple-peel-appearing bowel obstruction of unknown cause. We describe a Japanese girl with the apple-peel jejunal atresia associated with apparently balanced reciprocal translocation between chromosomes 2 and 3, t(2;3)(q31. 3;p24.2)mat. The translocation breakpoints in the patient may become candidate regions for the putative gene causing apple-peel atresia. Alternatively, the association of the two abnormalities in the patient is coincidental because her phenotypically normal mother had the same chromosome translocation.
Assuntos
Cromossomos Humanos Par 2 , Cromossomos Humanos Par 3 , Atresia Intestinal/genética , Jejuno/anormalidades , Translocação Genética , Bandeamento Cromossômico , Coloração Cromossômica , Feminino , Humanos , Lactente , CariotipagemRESUMO
We report on two new patients who had unilateral microphthalmia and esophageal atresia. A similar association was previously described in six patients. The accumulation of the eight affected patients provides further support for recognizing this association as a distinct syndrome.
Assuntos
Atresia Esofágica , Microftalmia , Adulto , Sistema Nervoso Central/anormalidades , Pré-Escolar , Atresia Esofágica/genética , Feminino , Transtornos da Audição/genética , Humanos , Lactente , Recém-Nascido , Cariotipagem , Masculino , Microftalmia/genética , Transtornos Psicomotores/genética , SíndromeRESUMO
We report on a 19-month-old girl with a derivative chromosome 9 and a recombinant chromosome 12 resulting from a maternal balanced complex rearrangement involving chromosomes 8, 9, and 12. The karyotype of the phenotypically normal mother was 46,XX,t(8;12) (9;12) (8qter-->8p23::12q12-->12q 15::9q32-->9qter;9pter-->9q32::12q15--> 12qter; 12pter-->12q12::8p23-->8pter). The child's karyotype was 46,XX,-9,-12, +der(9) (9pter-->9q32::12q15-->12qter), +rec(12) (12pter-->12q15::9q32-->9qter) mat. The child had severe growth retardation, minor anomalies including trigonocephaly, hypertelorism, broad nasal root, apparently low-set and posteriorly angulated ears, triangular face, pectus carinatum, clinodactyly of fifth fingers, and almost normal psychomotor development. To the best of our knowledge, there have been only 3 previous reports of recombination derived from parental complex chromosome rearrangements. In the recombination products, the chromosomes were apparently balanced and the offspring had no clinical abnormalities. The present case exhibited abnormalities and may have a submicroscopic aberration of 12q arising from crossing over during maternal meiotic pairing, although her chromosomes appeared to be balanced.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 9 , Recombinação Genética/genética , Bandeamento Cromossômico , Cromossomos Humanos Par 8 , Feminino , Transtornos do Crescimento/genética , Humanos , Lactente , CariotipagemRESUMO
Setleis syndrome is characterized by bitemporal skin depressions resembling forceps marks, abnormalities of the eyelashes, and "leonine" facial appearance. The cause is unknown, although autosomal recessive inheritance has been proposed. Recently, two families were reported in which one of the parents of a patient with Setleis syndrome showed mild manifestations, suggesting autosomal dominant inheritance. We describe a 9-month-old Japanese boy with typical Setleis syndrome. His father, who has normal intelligence, has bitemporal focal dermal dysplasia but a normal face. His paternal second cousin also has Setleis syndrome. This family shows autosomal dominant inheritance including father-to-son transmission of Setleis syndrome with variable expressivity and reduced penetrance. Careful examination of the relatives of patients with Setleis syndrome is recommended.
Assuntos
Pestanas/anormalidades , Face/anormalidades , Genes Dominantes , Anormalidades da Pele , Adulto , Feminino , Genes Recessivos , Humanos , Lactente , Inteligência , Masculino , Linhagem , Valores de Referência , SíndromeRESUMO
We describe a further patient with the Coffin-Siris syndrome who presented at 4 months with recurrent hypoglycemia attacks. Detailed examination was undertaken at 7 months but the cause of hypoglycemia was not detected. Hypoglycemia seems to be a previously undescribed finding in the Coffin-Siris syndrome.
Assuntos
Anormalidades Múltiplas/genética , Hipoglicemia/genética , Feminino , Dedos/anormalidades , Humanos , Lactente , SíndromeRESUMO
We report on a four-month-old girl with a de novo trisomy 16q [47,XX, +del(16)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,tel16q+, tel16p-)]. She had minor facial anomalies, limb anomalies, urogenital abnormalities, and severe cardiovascular defects. Autopsy confirmed left hypoplastic lung, total anomalous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilateral hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia. Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin.
Assuntos
Cromossomos Humanos Par 16 , Trissomia , Feminino , Humanos , Recém-Nascido , CariotipagemRESUMO
Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. We describe the cases of a 5-year-old boy and a 7-year-old girl with a similar constellation of symptoms and compared them with previously reported patients.
Assuntos
Hipotireoidismo Congênito , Fácies , Cardiopatias/congênito , Deficiência Intelectual/genética , Síndrome , Encéfalo/anormalidades , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/congênito , Humanos , Recém-Nascido , Japão , Imageamento por Ressonância Magnética , MasculinoRESUMO
We report on a 6-year-old girl with SPONASTRIME dysplasia, characterized by short-limbed dwarfism, a relatively large head, midfacial hypoplasia, a saddle nose, moderate deformities of the vertebral bodies, striated metaphyses, and normal intelligence. She showed severe skeletal changes including marked delay of epiphyseal ossification, evident metaphyseal dysplasia, and osteopathia striata more pronounced than in most of the previously reported patients with this disorder. The patient we describe and a male patient reported by Camera et al. [1994: Pediatr Radiol 24:322-324] are likely to represent the severely-affected end of the clinical spectrum of the disorder. These finding thus rule out the X-linked mode of inheritance of the disorder proposed by Camera et al. [1994: Pediatr Radiol 24: 322-324]. Alternatively, the two severely-affected patients may represent a variant form of the disorder. There is evidence that SPONASTRIME dysplasia is a genetically heterogeneous disorder.
Assuntos
Doenças do Desenvolvimento Ósseo/patologia , Doenças do Desenvolvimento Ósseo/classificação , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Feminino , Humanos , Lactente , RadiografiaRESUMO
We report on a boy with Rieger syndrome, who had an apparently balanced reciprocal translocation between chromosomes 1 and 4. The clinical manifestations of this patient were characterized by irregular shaped pupils with a prominent Schwalbe line and an umbilical hernia. On cytogenetic studies, he was found to have a de novo reciprocal translocation 46,XY,t(1;4) (q23.1;q25), without visible deletion. His parents had normal chromosomes. A review of both cytogenetic and genetic linkage analyses with Rieger syndrome showed that chromosome 4q was involved. This and other previous reports suggested that the gene for Rieger syndrome is mapped to the 4q25-->4q26 segment adjoining the breakpoint.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 4 , Anormalidades do Olho/genética , Translocação Genética , Adulto , Feminino , Genes Dominantes , Hérnia Umbilical/genética , Humanos , Lactente , Cariotipagem , Masculino , SíndromeRESUMO
We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and hemivertebra is the most common anomaly causing congenital scoliosis. The cause and the mode of inheritance of hemivertebrae are unknown. Our patient has a de novo balanced chromosome aberration and retains two copies of the LLGL gene, which is usually lacking in patients with Smith-Magenis syndrome (SMS). Since some SMS patients who showed a deletion at 17p11.2 had congenital scoliosis, it is likely that one (17p11.2) of the breakpoints in our patient is a candidate region for a hemivertebra locus.
Assuntos
Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 17/genética , Escoliose/genética , Translocação Genética , Criança , Feminino , Humanos , Cariotipagem , Vértebras Lombares/anormalidades , Vértebras Lombares/diagnóstico por imagem , Radiografia , Escoliose/diagnóstico por imagemRESUMO
We present two patients with multiple characteristics that occur in Noonan phenotype and cavernous hemangioma of the brain. The first patient, who had been diagnosed radiographically as having a cavernous hemangioma in the left basal ganglia at age 15 years, developed massive intracerebral hemorrhage, resulting in sudden death at home at 19 years. The second patient, who was diagnosed radiographically as having a cavernous hemangioma in the left parietal lobe at age 17 years, is being followed carefully (the patient is currently 18 years old). A review disclosed four cases of structural cerebrovascular abnormalities with or without subsequent hemorrhage. Neither these four patients nor our two patients had any severe anomalies in the heart or large vessels, which are frequently seen in patients with Noonan syndrome. Cerebrovascular abnormalities might have a significant influence on the prognosis of patients with Noonan syndrome, especially those having no severe abnormalities in the heart or large vessels.
Assuntos
Encefalopatias/patologia , Hemangioma Cavernoso/patologia , Síndrome de Noonan/patologia , Adolescente , Hemorragia Cerebral/etiologia , Morte Súbita , Feminino , Humanos , Imageamento por Ressonância Magnética , MasculinoRESUMO
We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17) (q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, parental diagnosis using FISH is feasible.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 17 , Translocação Genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , LinhagemRESUMO
We describe a 20-week-gestation male fetus with partial dup(5p) and proximal dup(13q), 47,XY,t(5;13)(p15;q21), + der(13)t(5;13)(p15;q21) mat. This finding is attributable to second meiotic nondisjunction of the rearranged chromosome in a maternal balanced reciprocal translocation. To the best of our knowledge, there have been only 3 previous reports of a similar error in the segregation of the rearranged chromosomes. For the first time evidence has been given that this unusual segregation is due to maternal second meiotic nondisjunction, using QFQ banding heteromorphisms. Second meiotic malsegregation should be taken into account in the consideration of reproductive problems in carriers of balanced translocations.
Assuntos
Cromossomos Humanos Par 13 , Cromossomos Humanos Par 5 , Meiose/genética , Não Disjunção Genética , Translocação Genética/genética , Anormalidades Múltiplas , Feminino , Heterozigoto , Humanos , Recém-Nascido , Masculino , TrissomiaRESUMO
In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution banding.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 16 , Mucosa Bucal , Síndrome de Rubinstein-Taybi/genética , Adolescente , Adulto , Bochecha , Criança , Pré-Escolar , Citogenética/métodos , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Japão/epidemiologia , Masculino , Gravidez , Síndrome de Rubinstein-Taybi/epidemiologiaRESUMO
Deletions at 22q11.1-q11.2 present with variable manifestations usually referred to as DiGeorge or velo-cardio-facial syndrome. We previously reported that deletions observed in patients with the syndrome can be subgrouped into three types (common large deletion, proximal deletion, and distal deletion) and demonstrated the presence of a second critical region for the syndrome. In order to characterize further the second critical region, a 22q11 deletion map was constructed from the data of 100 patients, using 12 DNA markers scattered in the common large deletion, and then a phenotype-genotype correlation was analyzed. The second critical region was found to correspond to the distal deletion encompassing the HCF2, cHKAD26, and D22S935 loci, and the proximal and distal deletions do not overlap each other. Although it seems that this condition is a contiguous gene syndrome, the phenotype of patients with these two types of deletion was indistinguishable from that of patients with the common large deletion. Thus, it is plausible that several genes located in the two segments corresponding to the two deleted regions are involved in the same developmental pathway or in an extremely long-range position effect.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/genética , Mapeamento Cromossômico , Sondas de DNA , Humanos , Hibridização in Situ Fluorescente , CariotipagemRESUMO
Shwachman-Diamond syndrome is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. There is broad clinical variability; the extent of heterogeneity is unknown but comparisons within a large cohort of patients show no striking differences between patients of families with single or multiple affected offspring. Segregation analysis of a cohort of 69 families has suggested an autosomal recessive mode of inheritance. A single constitutional de novo chromosome rearrangement was reported in a Japanese patient involving a balanced translocation, t(6;12)(q16.2;q21.2), thereby suggesting possible loci for a genetic defect. Evenly spaced microsatellite markers spanning 26-32 cM intervals from D6S1056 to D6S304 and D12S375 to D12S346 were analyzed for linkage in members of 13 Shwachman-Diamond syndrome families with two or three affected children. Two-point lod scores were calculated for each marker under assumptions of recessive inheritance and complete penetrance. Negative lod scores indicated exclusion of both chromosome regions. Further, affected sibs were discordant for inheritance of chromosomes in most families based on constructed haplotypes. The cytogenetic abnormality is not associated with most cases of Shwachman-Diamond syndrome.
Assuntos
Osso e Ossos/anormalidades , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 6 , Ligação Genética , Doenças Hematológicas/genética , Pâncreas/anormalidades , Translocação Genética , Feminino , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Linhagem , SíndromeRESUMO
We describe an unusual case of congenital primitive epithelial tumor of the liver with focal rhabdoid features. The present case is unique and informative in the following aspects: (1) a first case of congenital epithelial tumor of the liver with no hepatocytic differentiation but focal rhabdoid features, (2) clinical similarities to multicentric hemangioma or stage 4S neuroblastoma, (3) diagnosis obtained from histological examination of the placenta immediately after birth.
Assuntos
Hemangioma , Neoplasias Hepáticas/congênito , Neoplasias Hepáticas/patologia , Neuroblastoma , Placenta/patologia , Adulto , Diagnóstico Diferencial , Evolução Fatal , Feminino , Hemangioma/diagnóstico , Humanos , Recém-Nascido , Neoplasias Hepáticas/diagnóstico , Neuroblastoma/diagnóstico , Neoplasias Cutâneas/secundárioRESUMO
We describe a male patient with holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism. This rare association has previously been reported in two patients. We present a third case and propose a new association representing a distinguishable entity.