A Case Report of Dq-Syndrome

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  • OHNO Yohsuke
    Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine
  • MOTOYAMAT Toshihiko
    Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine
  • TAMAYA Eruhiko
    Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine
  • OKADA Hiroji
    Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine

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Other Title
  • Dq-Syndromeの1例について
  • Dq Syndrome ノ 1レイ ニ ツイテ

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Abstract

A male baby was born at term. His mother's prenatal course had been uneventfull. His parents were phenotypically normal and there were no cases of genetic or other malformations in their families. The birth weight (2240 gr), the body length (40 cm) and the head circumstance (31.5 cm) were mesured. This baby had several congenital malformations as follows; blephaloptosis, asymetric ears, low position of the ears, micrognathia, high arched palate, short neck, broad prominent nasal bridge, simian creasis, fifth finger short, undescending testis, scrotal hernia, hip dislocation and club foot.<br>Chromosomal study showed the shortened long arm in one of D-group of this baby and his parents kariotypes were normal.<br>These findings indicate clinical Dq-Syndrome

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