Science Links Japan | Familial Male Shortness of Stature and a Deletion of the Long Arm of Chromosome Y.

Familial Male Shortness of Stature and a Deletion of the Long Arm of Chromosome Y.

Accession number;02A0168953

Title;Familial Male Shortness of Stature and a Deletion of the Long Arm of Chromosome Y.

Author; TANAKA NORIKO (Ryokufukai Ryokufusobyoin Shonika) SONODA ERI (Kyorin Univ., Fac. of Med.) KAWATO HIDEHIKO (Ryokufukai Ryokufusobyoin Shonika)

Journal Title;Journal of the Japan Pediatric Society

Journal Code:F0896A

ISSN:0001-6543

VOL.106;NO.1;PAGE.71-75(2002)

Figure&Table&Reference;FIG.2, TBL.1, REF.14

Pub. Country;Japan

Language;Japanese

Abstract;We report the family of a five-year-old male proband who has a deletion of chromosome Y long arm with breakage in Yq12. He has a normal habitus with short stature. His father showed the same genotype and phenotype. Four generations of direct descent male family members had the same deleted Yq12 and showed similar short stature with normal sexual development and fertility. The Y chromosome rarely crosses over with the X chromosome during meiosis and is inherited by direct descent males. Therefore, we concluded male shortness of stature in these male family members followed sex-controlled inheritance linked to the deleted band Yq12. (author abst.)

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