1993年9月
PARTIAL MONOSOMY-5P AND PARTIAL TRISOMY-5Q DUE TO PATERNAL PERICENTRIC-INVERSION OF CHROMOSOME-5
JAPANESE JOURNAL OF HUMAN GENETICS
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- 巻
- 38
- 号
- 3
- 開始ページ
- 319
- 終了ページ
- 328
- 記述言語
- 英語
- 掲載種別
- 記事・総説・解説・論説等(学術雑誌)
- DOI
- 10.1007/BF01874142
- 出版者・発行元
- TOKYO MEDICAL DENTAL UNIV
A male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5 (46,XY,rec(5), dup q,inv(5)(p15.1q35.1)pat) is reported together with the oral findings. The phenotype was chiefly the cri-du-chat syndrome. Severe retardation of mental and motor development, microencephaly, cardiac malformation, crying and facial appearance unique to the cri-du-chat syndrome were observed. Perioral and intraoral findings included thin upper lip, down-turning corners of mouth, micrognathia, shallow palate, and cleft of soft palate. Anterior deciduous teeth were small and canine deciduous teeth were conic. The row of deciduous teeth showed a flat arch-like shape that was very wide but short in length. No abnormality was noted in the number of deciduous teeth or the timing of eruption.
- リンク情報
- ID情報
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- DOI : 10.1007/BF01874142
- ISSN : 0916-8478
- Web of Science ID : WOS:A1993MC63900008