Korean J Clin Pathol.  2002 Apr;22(2):125-129.

A Case of X;Y Translocation with Complex Minor Anomalies and Mental Retardation: 46,Y,der(X)t(X;Y)(p22.3;q11.2)mat

• Ha JS
• Ryoo NH
• Jeon DS
• Kim JR
• Cho YJ
• Kim EJ
• Kim SH
• Woo HY

Abstract

A three year old boy was admitted due to minor anomalies, such as hypertelorism, clinodactyly, ear anomaly, simian crease, renal anomalies, cryptorchism and mild mental retardation. The chro-mosome and FISH analysis showed 46,Y,der(X)t(X;Y)(p22.3;q11.2), and the same chromosomal pattern was found in the mother, who showed no phenotypic anomalies or mental retardation. According to previously reported X-Y translocation cases, the Xp22.3 was the most common breakpoint and many X-linked diseases, which are regulated by the genes located in Xp22.3, were expressed in a variable pattern, such as chondrodysplasia punctata, X-linked ichthyosis, mental retardation, Kallmann syndrome as the sole anomaly or a complex pattern. This boy did not show the typical anomalies that correspond to the above diseases. However, regular follow up and addi-tional studies with adequate counseling will be necessary due to the possibility of delayed ccurence of other typical symptoms and problems such as infertility as he grows up.

Keyword

X;Y translocation; Xp22.3; X-linked disease

MeSH Terms

Chondrodysplasia Punctata
Counseling
Cryptorchidism
Ear
Humans
Hypertelorism
Ichthyosis
Infertility
Intellectual Disability*
Kallmann Syndrome
Male
Mothers