Chromosomal Abnormalities

Index

1.The chromosome 9p syndrome with microgenitalia
2.Ring chromosome 13 syndrome in an adult male with mild mental retardation
3.Ring Chromosome 15 syndrome in an adult female
4. Interstitial deletion of chromosome 10 in adult male with microgenitalia and gynecomastia
5. Terminal deletion of chromosome 10 in adult male(in preparation)

1.The chromosome 9p syndrome with microgenitalia

ABSTRACT
We report an 18 year old male with monosomy 9p syndrome. Clinical features included microgenitalia, mental retardation with microcephaly and dysmorphic features consistent with those of the known 9p syndrome. Endocrinological investigations indicated gonadal failure with raised FSH and LH concentrations and a low testosterone level. On examination the SRY gene was found to be normal hence we support previous reports which suggest that there is a gene on 9p involved in early testes development. Furthermore agenesis of the corpus callosum is reported for the first time in 9p syndrome,

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2.Ring chromosome 13 syndrome in an adult male with mild mental retardation

ABSTRACT
A case of ring 13 syndrome in an 18-year-old male is presented with particular focus on mental retardation. The clinical picture was characterised by mild mental retardation, microcephaly, large low set ears, a broad nasal bridge, epicanthus, micrognatia and short philtrum. A review of the literature with a focus on mental retardation concluded that descriptions of mental retardation were often unqualified and at times ambiguous but most cases show severe mental retardation. In contrast to the characteristic description of ring chromosome 13 syndrome which describes marked mental retardation, we emphasize that a small number of cases with mild mental retardation exist .
Keyword: chromosomal abnormality, mental retardation, ring chromosome 13 syndrome,

3.Chromosome 15 syndrome in an adult female

Abstract
In this paper, the authors present the case of 24-year-old female with ring 15 chromosome syndorome. Upon examination, the patient presented with severe mental retardation, dwarfism and microcephaly, along with other minor dysmorphic stigmata. We compared this case with three other adult female cases with this chromosomal aberration. As a result, the authors observed a somewhat dysharmonious profile between the level of mental retardation and behavioural findings in the four women, while sexual development and gonadal function seemed to be normal in all four cases.

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4.Interstitial deletion of chromosome 10 with microgenitalia and gynecomastia

Abstract
We describe an 18 year old male with an interstitial deletion of the long arm of chromosome 10: del(10) (q11.23 q22.1) and abnormal sexual development. This was characterized by dysplasia of the genital organs, absence of axillary hair and sparse pubic hair and a female like physique with bilateral gynaecomastia. Other clinical findings included severe mental retardation and minor anomalies , both of which were consistent with other reports. A review of the literature revealed 12 other cases of interstitial deletion of chromosome 10, 3 of which exhibited features of abnormal male sexual development. We conclude that there is an association between chromosome 10 and abnormal male sex development.