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Trisomy 9q3 syndrome: a case report and review of the literature
Author(s) -
Naritomi K.,
Izumikawa Y.,
Goya Y.,
Gushiken M.,
Shiroma N.,
Hirayama K.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02947.x
Subject(s) - trisomy , partial trisomy , karyotype , phenotype , craniofacial , genetics , dermatoglyphics , biology , medicine , pediatrics , chromosome , gene
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‐karyo‐type 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.