PARTIAL TRISOMY FOR THE DISTAL PART OF THE LONG ARM OF CHROMOSOME 15 : A NEW SYNDROME ? :

NDLデジタルコレクション
  • KANEKO,Keijiro
    Department of Obstetrics, and Gynecology, Kyushu Kosei-Nenkin Hospital
  • KATABUCHI,Hidetaka
    Department of Obstetrics, and Gynecology, Kyushu Kosei-Nenkin Hospital
  • MURATA,Hiromi
    Department of Obstetrics, and Gynecology, Kyushu Kosei-Nenkin Hospital

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A malformed male neonate with partial trisomy 15q dist (q22→qter), because of malsegregation of a balanced translocation (7;15) (p22;q22) in his mother, is described.Comparison of this patient with thirteen previously published cases of this trisomy reveals a pattern of common features including : peculiar craniofacial dysmorphism -facial asymmetry, antimongoloid slant, narrow or short palpebral fissures, prominent nose, long or distinct philtrum, long upper lip, micro or retrognathia, high arched palate, low set ears, malformed ears, protuberant , occiput-, abnormal fingers and toes, short neck, mental and growth retardation, cardiopathy, respiratory distress etc.The main clinical findings seem to be similar enough to justify the establishment of a new entity of partial trisomy 15q dist syndrome.

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