1989
DOI: 10.1111/j.1399-0004.1989.tb02947.x
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Trisomy 9q3 syndrome: a case report and review of the literature

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‐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.

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Cited by 19 publications
(5 citation statements)
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“…Patients with partial trisomy of 9q34 share a number of dysmorphic features with patients having longer duplication [Turleau et al, 1975;Subrt et al, 1976;Aftimos et al, 1980;Soltan et al, 1984;Ten et al, 1987;Naritomi et al, 1989;Kleczkowska et al, 1993;Hou and Wang, 1995]. The common features include dolichocephaly, deep-set eyes, small mouth, micrognathia, retrognathia, and long fingers with a peculiar clench.…”
Section: Discussionmentioning
confidence: 95%
“…Patients with partial trisomy of 9q34 share a number of dysmorphic features with patients having longer duplication [Turleau et al, 1975;Subrt et al, 1976;Aftimos et al, 1980;Soltan et al, 1984;Ten et al, 1987;Naritomi et al, 1989;Kleczkowska et al, 1993;Hou and Wang, 1995]. The common features include dolichocephaly, deep-set eyes, small mouth, micrognathia, retrognathia, and long fingers with a peculiar clench.…”
Section: Discussionmentioning
confidence: 95%
“…Clinical features in our case include some of the features observed in patients with partial trisomy 9q (Turleau et al 1975, Ten et al 1987, Naritomi et al 1989, Nichols 1990): low birth weight, failure to thrive, mental retardation, narrow face, epicanthic folds, beaked nose, small mouth, and micrognathia. Also, our patient had features of 10q deletion.…”
Section: T'mentioning
confidence: 72%
“…Patients with partial trisomy of 9q34 share a number of dysmorphic features with patients having longer duplication [Turleau et al, 1975; Subrt et al, 1976; Aftimos et al, 1980; Soltan et al, 1984; Ten et al, 1987; Naritomi et al, 1989; Kleczkowska et al, 1993; Hou and Wang, 1995]. The common features include dolichocephaly, deep‐set eyes, small mouth, micrognathia, retrognathia, and long fingers with a peculiar clench.…”
Section: Discussionmentioning
confidence: 99%