Literature DB >> 2653675

Trisomy 9q3 syndrome: a case report and review of the literature.

K Naritomi1, Y Izumikawa, Y Goya, M Gushiken, N Shiroma, K Hirayama.   

Abstract

A girl with partial trisomy 9q is reported. She was characterized by dolichomorphism, abnormalities of the digits, a cardiac defect and craniofacial dysmorphism. A high-resolution analysis revealed the karyotype to be: 46,XX,-3,+ der(3)t(3;9)(q29;q13) de novo. A phenotype-karyotype correlation study in 22 cases of partial trisomies 9q supported the delineation of a trisomy 9q3 syndrome. The smallest region of overlap was confined to 9q32.

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Year:  1989        PMID： 2653675     DOI： 10.1111/j.1399-0004.1989.tb02947.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.

Authors:  T Mattina; M Pierluigi; D Mazzone; S Scardilli; C Perfumo; F Mollica
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

2.  Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

Authors:  Junichiro Machida; Têmis M Félix; Jeffrey C Murray; Koh-ichiro Yoshiura; Mitsuyo Tanemura; Munefumi Kamamoto; Kazuo Shimozato; Shin-ichi Sonta; Takao Ono
Journal:  Cleft Palate Craniofac J       Date:  2009-02-02

3.  A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.

Authors:  Yu-Chun Zhou; Cui Zhang; Jin-Sheng Zhai; Tian-Fu Li; Qiu-Yue Wu; Wei-Wei Li; Na Li; Xiao-Jun Li; Yu-Feng Huang; Ying-Xia Cui; Xin-Yi Xia
Journal:  Mol Med Rep       Date:  2015-03-05       Impact factor: 2.952
  3 in total

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