RESUMO
In this report we describe two siblings with pre- and postnatal growth retardation and clinical signs and symptoms most compatible with the diagnosis of Floating-Harbor syndrome. The oldest sibling, a girl, died in the first year of life from recurrent infections. The younger sibling, a male, is now 16.5 years old and mildly mentally retarded.
Assuntos
Anormalidades Craniofaciais , Insuficiência de Crescimento , Transtornos do Crescimento , Deficiência Intelectual , Determinação da Idade pelo Esqueleto , Face/anormalidades , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Desempenho Psicomotor , Distúrbios da Fala , SíndromeAssuntos
Segundo Trimestre da Gravidez , Aberrações dos Cromossomos Sexuais/embriologia , Testículo/patologia , Aborto Induzido , Amniocentese , Células Cultivadas , Feminino , Humanos , Masculino , Gravidez , Aberrações dos Cromossomos Sexuais/diagnóstico , Aberrações dos Cromossomos Sexuais/genética , Aberrações dos Cromossomos Sexuais/patologia , Testículo/embriologiaRESUMO
In this report we review the data on 75 male patients with extra Y chromosome diagnosed in Leuven in the period 1968-1993 among 98,725 patients (males and females) referred for constitutional chromosomal analysis. Special attention was given to their mental performance and psychosocial functioning. 1. Fifty male with 47,XYY karyotype were diagnosed. This is very close to the incidence of XYY in newborn studies and indicates that the frequency of MR/MCA is not increased in XYY male in general. 2. In the 60 patients with "pure" Y chromosome polysomy, the most frequent indication for karyotyping was the presence of MR and/or characterological problems in the index patients. Mental retardation was mostly borderline to mild, and severe mental retardation was rare. Characterological problems, difficulties in psychosocial integration and psychiatric problems were found in 86% of the mentally retarded versus 24% of the mentally normal men. 3. The 48,XXYY syndrome is characterized by markedly frequent and severe behavioural and psychiatric problems.
Assuntos
Deficiência Intelectual/genética , Transtornos Mentais/genética , Aberrações dos Cromossomos Sexuais/genética , Ajustamento Social , Cariótipo XYY/genética , Cromossomo Y , Anormalidades Múltiplas/genética , Adolescente , Adulto , Criança , Pré-Escolar , Mapeamento Cromossômico , Humanos , Hipogonadismo/genética , Lactente , Infertilidade Masculina/genética , Inteligência/genética , Síndrome de Klinefelter/genética , Masculino , Pessoa de Meia-Idade , Síndrome da Unha-Patela/genética , Testes Neuropsicológicos , Fenótipo , Fatores de RiscoRESUMO
In this report the authors describe the fetopathological findings in a second trimester male fetus with pure 9p tetrasomy. The prenatal diagnosis was based on the echographic finding of severe internal anomalies of the central nervous, cardiovascular and urogenital systems.
Assuntos
Anormalidades Múltiplas/genética , Aneuploidia , Cromossomos Humanos Par 9 , Ultrassonografia Pré-Natal , Adulto , Desenvolvimento Embrionário e Fetal/genética , Feminino , Humanos , Cariotipagem , Masculino , Gravidez , Segundo Trimestre da GravidezAssuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 7 , Ossos Faciais/anormalidades , Deficiência Intelectual/genética , Sequências Repetitivas de Ácido Nucleico/genética , Crânio/anormalidades , Trissomia/genética , Adolescente , Transtornos Cromossômicos , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Inteligência/genética , Cariotipagem , Fenótipo , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/genéticaAssuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 2 , Rearranjo Gênico/genética , Deficiência Intelectual/genética , Translocação Genética/genética , Anormalidades Múltiplas/diagnóstico , Transtorno Autístico/genética , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Masculino , FenótipoRESUMO
In this report the authors describe a multimalformed female newborn with terminal deletion of the long arm of chromosome 5 (q35.1qter). The multiple congenital anomaly syndrome consisted of a combination of oral, facial and digital anomalies. The present observation indicates that cytogenetic studies are needed in all patients presenting developmental delay and oro-facio-digital anomalies not consistent with the diagnosis of oro-facio-digital syndromes type I and type II.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 5 , Síndromes Orofaciodigitais/genética , Feminino , Humanos , Recém-Nascido , CariotipagemRESUMO
In this report the authors describe the phenotype of a female newborn with trisomy 15 mosaicism and double aneuploidy (47, XX, +15/47, XXX). Comparison with the two other patients with trisomy 15 mosaicism reported up to now, reveals a distinct phenotype with typical craniofacial dysmorphism, severe hypotonia and general symptoms and signs compatible with a fetal akinesia sequence.
Assuntos
Cromossomos Humanos Par 15 , Ossos Faciais/anormalidades , Mosaicismo , Hipotonia Muscular , Crânio/anormalidades , Trissomia , Feminino , Humanos , Recém-Nascido , Cariotipagem , FenótipoRESUMO
In this study we collected data on the cognitive abilities, psychosocial adjustment and psychopathology of 20 non-institutionalized adult Turner syndrome patients. The majority of them had a normal intelligence, most were socially well adapted and no high prevalence of psychopathology was noted. In only one patient evidence of a serious bipolar hypomanic disorder and antisocial personality was found, and in one other an episode of anorexia nervosa. Nevertheless, 50% of the women expressed feelings of low self-confidence, depression and social insecurity i.e. achieving a mature level of psycho-social functioning remains a problem for a number of Turner individuals. In the counseling process of adult Turner patients special attention should be given to the social and psychological functioning so that intervention can be made if social awkwardness and psychological well-being becomes a problem.
Assuntos
Cognição , Comportamento Social , Síndrome de Turner/psicologia , Adaptação Psicológica , Adulto , Transtorno Depressivo/etiologia , Emprego , Feminino , Humanos , Infertilidade Feminina/etiologia , Infertilidade Feminina/psicologia , Inteligência , Cariotipagem , Psicopatologia , Autoimagem , Síndrome de Turner/complicações , Síndrome de Turner/genéticaRESUMO
In this report we describe a 24-year-old mentally normal female with spastic paraparesis, premature menopause and with a duplication of Xq22.3-->q27.3. The relationship between the X-chromosomal anomaly and the gonadal and neurological symptoms is discussed.
Assuntos
Menopausa Precoce/genética , Paraparesia Espástica Tropical/genética , Cromossomo X , Adulto , Mecanismo Genético de Compensação de Dose , Feminino , Humanos , Cariotipagem , Mosaicismo , Aberrações dos Cromossomos SexuaisRESUMO
In this report we describe a 6-month-old female child with inverted duplication of bands 9q32-9q33. The phenotypic findings are identical to the clinical syndrome previously reported to be associated with 9q31-9q32 duplication. The findings in the present child indicate that the minimal segment of overlap in this partial trisomy syndrome is 9q32.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 9 , Microcefalia/genética , Trissomia , Bandeamento Cromossômico , Inversão Cromossômica , Fissura Palatina/genética , Face/anormalidades , Feminino , Humanos , Lactente , Fenótipo , SíndromeRESUMO
In this report we present a female newborn with Wiedemann-Beckwith syndrome and duplication 4q/deficiency 18p as the result of an unbalanced paternal 4q/18p translocation: karyotype: 46,XY,t(4;18)(q34.2;p11.32). The different mechanisms resulting in prenatal overgrowth and Wiedemann-Beckwith syndrome phenotype are reviewed. The suggestion is made that contiguous gene duplications/deletions other than those located in the 11p15 region may exist.
Assuntos
Síndrome de Beckwith-Wiedemann/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 18 , Cromossomos Humanos Par 4 , Síndrome de Beckwith-Wiedemann/diagnóstico , Transtornos Cromossômicos , Feminino , Humanos , Lactente , Cariotipagem , FenótipoRESUMO
In this paper we report the findings and data on a cross-sectional study of 50 pre-adolescent and adolescent girls with Turner syndrome. We confirm the presence of a typical cognitive profile in the different age groups with normal verbal intelligence contrasting with lower results on performal IQ subtests, related to relative weaknesses on visuospatial subtests i.e. "Block Design" and "Object Assembly". 5% of the girls with a "classical" Turner syndrome karyotype (i.e. 2/40) were mentally retarded versus 30% (i.e. 3/10) in the group with "rare" karyotypic anomalies. We noted a positive influence of hormonal therapy on the visuospatial functioning. No evidence was found for a high risk for behavioural problems. Hyperactive behaviour was seen in the youngest patients contrasting with a tendency to hypoactivity around the age of normal puberty. Problems in social development were noted from the age of primary school on resulting in social immaturity and even isolation. A proposal for guidance of Turner girls during the different developmental periods is given.
Assuntos
Transtornos do Comportamento Infantil/genética , Inteligência/genética , Desenvolvimento da Personalidade , Ajustamento Social , Síndrome de Turner/genética , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Transtornos do Comportamento Infantil/psicologia , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Cariotipagem , Comportamento Social , Síndrome de Turner/psicologia , Escalas de WechslerAssuntos
Transtorno Autístico/genética , Cromossomos Humanos Par 18 , Mosaicismo , Cromossomos em Anel , Adulto , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
In this paper the authors describe three patients with trisomy of the short arm of chromosome 4 with special attention to the striking phenotypic changes with age. When they get older the round face with chubby cheeks, deeply-set eyes and broad and flat nasal root with a bulbous nose tip becomes triangular or even long. Postnatal growth retardation is pronounced with short neck and broad, short chest with hyperkyphosis. The moderate to severe mental retardation is associated with almost absence of speech development, severe behavioural problems and poor fine motor development with persisting hypertonia, stiff, unstable gait, joint contractures and seizures.
Assuntos
Cromossomos Humanos Par 4/ultraestrutura , Face/anormalidades , Deficiência Intelectual/genética , Transtornos Psicomotores/genética , Trissomia , Envelhecimento/fisiologia , Criança , Feminino , Transtornos do Crescimento/genética , Humanos , Recém-Nascido , Cariotipagem , Masculino , Linhagem , FenótipoRESUMO
In this report the authors describe an 8-year-old severely mentally retarded girl with facial features resembling the facial dysmorphism seen in patients with Alagille-Watson syndrome, severe growth retardation and a 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism in fibroblasts.
