Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Leuven (Belgium)
Recently, we examined a 2-year-old boy with the association of microcephaly and significant pedal edema that extended to the distal parts of the legs. Prometaphase chromosome studies showed a small terminal deletion in the long arm of chromosome 13 of band 13q34, karyotype 46,XY,del(13)(q34{yields}qter). The present finding of a small terminal 13q34 deletion in this young boy with microcephaly/lymphedema is a first indication that the lymphedema/microcephaly association can be due to a small terminal 13q deletion. 2 refs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105219
- Journal Information:
- American Journal of Medical Genetics, Vol. 57, Issue 3; Other Information: PBD: 3 Jul 1995
- Country of Publication:
- United States
- Language:
- English
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