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1.
Am J Med Genet ; 64(4): 580-2, 1996 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-8870925

RESUMO

In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal-to-short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3-0.9% in males with X chromosome polysomies.


Assuntos
Isocromossomos/genética , Síndrome de Klinefelter/genética , Cromossomo X , Adulto , Feminino , Humanos , Masculino
2.
Am J Med Genet ; 91(1): 74-82, 2000 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-10751094

RESUMO

We report on three cases of partial trisomy 2p in which the identification and exact localization of the duplicated chromosome segment was possible only by application of molecular cytogenetic techniques. These included fluorescence in situ hybridization by use of wcp2, N-myc, and subtelomeric 2p probes and comparative genomic hybridization with DNA isolated from blood samples, frozen fetal tendon, and formalin fixed, paraffin-embedded fetal lung tissue. Two of the cases concerned fetuses of gestational week 20 and 24 with duplication of nonoverlapping terminal (2pter-->p24) and more proximal (2p25-->p23) segments and with distinctly different phenotypes. The third case was due to a de novo inverted duplication of 2p25-->p23, with loss of the subtelomeric region of 2p. This 53-month-old girl was a Bloom syndrome carrier. The patient had prenatal growth failure, borderline microcephaly, dilated lateral horns of the cerebral ventricles, transient cortical blindness, myopia, muscle hypotonia, and dilatation of the left renal collecting system. Dermal cysts were found on the glabella, the soles of both feet, and the vocal cord, causing respiratory embarrassment. Previously reported cases of pure trisomy 2p are reviewed, in an attempt to correlate clinical findings to overlapping regions in 2p. These cases illustrate the effectiveness of molecular cytogenetic methods in resolving subtle chromosomal aberrations in order to coordinate more accurately a chromosome regionspecific phenotype.


Assuntos
Cromossomos Humanos Par 2/genética , Trissomia , Aborto Induzido , Adulto , Criança , Pré-Escolar , Bandeamento Cromossômico , Análise Citogenética , Evolução Fatal , Feminino , Morte Fetal , Seguimentos , Transtornos do Crescimento/genética , Transtornos do Crescimento/patologia , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Inclusão em Parafina , Gravidez , Transtornos Psicomotores/genética , Transtornos Psicomotores/patologia , Inclusão do Tecido
3.
Hum Genet ; 81(4): 329-34, 1989 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-2703236

RESUMO

This report documents the first 262 cases of chorionic villus sampling (CVS) performed in parallel with cytogenetic and morphological investigations. Histomorphological examination of these CVS specimens gave suitable results in about 96% (251 cases). Of the latter, 201 samples (80.1%) exhibited villi and 176 (70.1%), maternal tissue. Viability and maturation of the chorionic villi were determined light microscopically even in cases with few villus trees. Smooth avascular villi with poorly defined margins observed under an inverted microscope, less than 10 mitoses after short-term incubation, and reduced growth of cell cultures were significantly correlated with sampling at the chorion laeve by means of histomorphologic criteria. Villi from cases exhibiting cytogenetically proved chromosomal abnormalities were characterized by molar degeneration or stromal fibrosis, or both, in 4 out of 9 cases, including 3 mosaics. In early abortions (within 3 weeks after CVS), an unexpectedly high rate of pathohistological changes within maternal tissue was evident. These results need further confirmation by investigation of a greater number of samples with immunohistochemical and morphometric methods.


Assuntos
Amostra da Vilosidade Coriônica , Vilosidades Coriônicas/patologia , Aberrações Cromossômicas , Adulto , Sobrevivência Celular , Células Cultivadas , Amostra da Vilosidade Coriônica/efeitos adversos , Bandeamento Cromossômico , Decídua/patologia , Endométrio/patologia , Feminino , Humanos , Microscopia Eletrônica , Gravidez , Fatores de Risco
4.
Hum Genet ; 78(1): 103-5, 1988 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-2962924

RESUMO

A young family with four chromosomally documented cases of trisomy 21, at least two, further cases of Down syndrome diagnosed only clinically, and no healthy children among their offspring is reported. No sign of mosaicism was found in studies of lymphocytes and skin fibroblasts from the parents. In a biopsy from the mother's ovary a trisomic cell line was found, thus giving some, but not a complete explanation for this extraordinary family. Additional explanations are suggested.


Assuntos
Síndrome de Down/genética , Adulto , Feminino , Humanos , Recém-Nascido , Cariotipagem , Masculino , Mosaicismo , Ovário/ultraestrutura , Linhagem , Recidiva , Fatores de Risco
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