RESUMO
We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the same anal, clitoral, and foot anomalies, a solitary pelvic kidney, and no fistula. This family is likely to represent autosomal dominant inheritance of a new combination of malformations, which may overlap with the Townes-Brocks syndrome, but does not fall into a current diagnostic category.
Assuntos
Canal Anal/anormalidades , Anormalidades Congênitas/genética , Genitália/anormalidades , Rim/anormalidades , Sindactilia/genética , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Feminino , Genes Dominantes/genética , Humanos , Lactente , Linhagem , Pelve/anormalidadesRESUMO
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia. The demonstration of HbH inclusions in red blood cells after incubation with brilliant cresyl blue confirms the diagnosis. We describe 15 previously unreported cases and analyse the phenotypic and hematologic findings in these subjects and compare them with previously published cases. This study demonstrates the consistency of the main characteristics of this syndrome and extends the phenotype. Developmental changes in phenotype, in particular the coarsening of the facial appearance, are illustrated. The hematologic findings are shown to vary widely; in some cases the manifestation of alpha-thalassemia may be subtle and missed without repeated examination.
Assuntos
Deficiência Intelectual/genética , Cromossomo X , Talassemia alfa/sangue , Anormalidades Múltiplas/genética , Adolescente , Criança , Pré-Escolar , Volume de Eritrócitos , Feminino , Ligação Genética , Hemoglobina H/análise , Heterozigoto , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Síndrome , Talassemia alfa/genética , Talassemia alfa/patologiaAssuntos
Genes , Doença de Huntington/genética , Polimorfismo Genético , Sequências Repetitivas de Ácido Nucleico , Idade de Início , Alelos , Sequência de Bases , Fibrose Cística/genética , Feminino , Frequência do Gene , Humanos , Doença de Huntington/epidemiologia , Masculino , Dados de Sequência MolecularRESUMO
We describe a 17 year old male with a low level of trisomy 9 mosaicism. Maternal uniparental chromosome 9 disomy in the euploid cell line was shown to have arisen after postzygotic loss of the paternal chromosome 9 from the trisomic cell line by cytogenetic and molecular analysis. This is believed to be the first report of uniparental disomy for chromosome 9. In four of the 11 reported cases of mosaic trisomy 9 syndrome, including our patient, a maternally derived pericentric inversion of the heterochromatic area of chromosome 9 has been present in duplicate in the trisomic cell line. This may have implications for the counselling of patients with this common chromosomal variant.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 9 , Deficiência Intelectual/genética , Mosaicismo/genética , Trissomia/genética , Adolescente , Linhagem Celular , Inversão Cromossômica , Orelha/anormalidades , Face/anormalidades , Humanos , Masculino , Pescoço/anormalidadesRESUMO
We report the case of a mentally retarded male with a ring 17 chromosome who had subretinal drusen-like deposits in each eye. This is the second report of flecked retina in a patient with ring 17 chromosome, suggesting that there may be a causal relationship between abnormalities of chromosome 17 and retinal pigment epithelial or photoreceptor dysfunction.
Assuntos
Cromossomos Humanos Par 17 , Drusas Retinianas/genética , Cromossomos em Anel , Adulto , Angiofluoresceinografia , Transtornos do Crescimento/genética , Humanos , Deficiência Intelectual/genética , Masculino , Melanose/genética , Retina/patologia , Drusas Retinianas/patologiaRESUMO
We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.
Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 20 , Adolescente , Adulto , Osso e Ossos/anormalidades , Pré-Escolar , Colestase/genética , Bandeamento Cromossômico , Anormalidades do Olho/genética , Ossos Faciais/anormalidades , Feminino , Cardiopatias Congênitas/genética , Humanos , Lactente , Rim/anormalidades , Masculino , Crânio/anormalidades , SíndromeRESUMO
A first case of "pure" trisomy 20q (q11.2-qter) is described in a female child with minor anomalies and developmental delay. This resulted from the inheritance, from a carrier mother, of an abnormal X chromosome: der (X)t(X;20)(q28;q11.2). Involvement of other autosomes has complicated the interpretation of the phenotypic effect of trisomy 20q in previously published case reports. Red cell gene dosage studies using adenosine deaminase (ADA) have confirmed that the proposita is trisomic for 20q. Taken together with RBG staining studies, these results suggest that there is incomplete inactivation, if any, of the autosomal portion of the consistently late-replicating abnormal X. Unexpectedly, ADA gene dosage results in the carrier mother showed a level of gene expression about half that of normal controls.
Assuntos
Cromossomos Humanos Par 20 , Trissomia , Cromossomo X , Mecanismo Genético de Compensação de Dose , Feminino , Humanos , FenótipoRESUMO
Two major types of chondrodysplasia punctata have been delineated; a severe, recessively inherited, rhizomelic form and the less severe, dominantly inherited Conradi-Hünerman form. Clinico-genetic analysis of this latter form of CP uncovered a sub-group characterised by asymmetric involvement with linear or whorled skin patches of ichthyosiform erythroderma or atrophoderma, circumscribed cicatricial alopecia, asymmetrical cataracts and limb shortness. The mosaic pattern of the manifestations and the limitation of reported cases to females suggested an X-linked dominant gene which undergoes Lyonisation in the female and is lethal in the hemizygous male. We report on a family ascertained through a baby girl who had manifestations typical of the X-linked dominant form of CP and whose mother, 2 of 3 maternal aunts, and maternal grandmother all had less severe manifestations. The absence of male offspring for 3 generations and a history of 3 early miscarriages, along with the clinical variability in the affected females, provide further support for X-linked dominant inheritance of this disorder.
Assuntos
Condrodisplasia Punctata/genética , Pré-Escolar , Feminino , Ligação Genética , Humanos , Masculino , Linhagem , Cromossomo XAssuntos
Amenorreia/genética , Aconselhamento Genético , Complicações na Gravidez/genética , Aborto Espontâneo/genética , Adolescente , Adulto , Amniocentese , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Feminino , Doenças Genéticas Inatas/diagnóstico , Humanos , Gravidez , Diagnóstico Pré-NatalAssuntos
Aconselhamento Genético , Aberrações Cromossômicas/diagnóstico , Aberrações Cromossômicas/prevenção & controle , Transtornos Cromossômicos , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/prevenção & controle , Técnicas Genéticas , Humanos , Recém-Nascido , Masculino , GravidezRESUMO
Data are presented on an association between toxaemia of pregnancy and consanguinity of patients, seen at a Turkish hospital, and their husbands. Women with toxaemia were less frequently related to their husbands than those with no signs of pre-eclampsia. The relationship between toxaemia in twin pregnancies and the sexes of the twin pairs from four sources are examined. In all four pre-eclampsia seems to be more common in unlike-sex than in like-sex twin pregnancies, and, by extension, to be more common in dizygous than in monozygous twin pregnancies.