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.
- Author:
Jung Sook HA
1
;
Nam Hee RYOO
;
Dong Suk JEON
;
Jae Ryong KIM
;
Yun Jung CHO
;
Eun Jin KIM
;
Sun Hee KIM
;
Hee Yeon WOO
Author Information
1. Department of Clinical Pathology, Dong-San Medical Center, College of Medicine, Kemyung University, Daegu, Korea. ksksmom@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
X;
Y translocation;
Xp22.3;
X-linked disease
- MeSH:
Chondrodysplasia Punctata;
Counseling;
Cryptorchidism;
Ear;
Humans;
Hypertelorism;
Ichthyosis;
Infertility;
Intellectual Disability*;
Kallmann Syndrome;
Male;
Mothers
- From:Korean Journal of Clinical Pathology
2002;22(2):125-129
- CountryRepublic of Korea
- Language:Korean
-
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.