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Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (1): 89-96
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-76552


A rare case of de novo interstitial deletion of the long arm of chromosome 21 involving 21q22.13-q22.22 is described here. This finding was detected by high resolution banding techniques and then confirmed by FISH study. The phenotypic abnormality was to some extent similar to that previously found in cases reported with deletion of 21q, spanning the long arm of chromosome 21 from the centromere to 21q22. This is the first reported case at Kuwait Medical Genetics Centre with abrasion involving this region. It supports what was previously suggested that the critical region for full phenotype expression lies distal to 21q21, within 21q22.1-q22.2

Humanos , Masculino , Cromossomos Humanos Par 21 , Fenótipo , Análise Citogenética , Aberrações Cromossômicas , Hibridização in Situ Fluorescente , Monossomia
Alexandria Journal of Pediatrics. 1999; 13 (2): 327-331
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-50198


Two unrelated phenotypically males with 46,XX karyotype are presented. The first patient is 5.5 year old who presented with congenital undescended testis while the other patient is 35 year old who has infertility since 6 years. Hormonal profile of the second patient is consistent with hypergonadotrophic hypogonadism with low testosterone level. The first patient's profile revealed a picture consistent with 21-hydroxylase deficiency. FISH technique using [Quint-Essential-Y-specific DNA probe] specific for Yp11.2 region was applied on metaphase spreads revealed the presence of Yp11.2 sequence on the short arm of the X chromosome in the second patient while it was absent in the first patient. DNA analysis of both patients using SRY gene amplification revealed the existence of SPY gene in the second patient and absence of the gene in the first patient. The possible underlying mechanisms for sex reverse in both cases are discussed

Humanos , Masculino , Masculino , Análise Citogenética , Hibridização in Situ Fluorescente , Reação em Cadeia da Polimerase , Criança