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Partial 11q trisomy syndrome

✍ Scribed by Helena Pihko; Eeva Therman; Irene A. Uchida

Publisher: Springer
Year: 1981
Tongue: English
Weight: 658 KB
Volume: 58
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00278696

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Partial trisomy 9q- chromosomal syndrome

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The clinical features consisting mainly of enophthalmos, beaked nose, narrow palpebral fissures, receding chin, long fingers and toes, typical for chromsomal syndrome or partial trisomy 9q, were confirmed in a new case.

Partial trisomy 9q: A new syndrome

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Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q.

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A male infant with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat) is described. Clinical findings include small for gestational age, hypoglycemia, ocular hypertelorism, microphthalmia, coloboma of the iris, low-set ears, beak nose, micrognathia, micropenis, cryptorchidism, presacral

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The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the pl3-+q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral mierophtalmia, high arched palate, and anomalies of hands and fee

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Partial trisomy 4q syndrome: Case report

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✍ Jaroslav Cervenka; Gholam Reza Djavadi; Robert J. Gorlin 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 901 KB

This communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(Q27;Q25)]. Three generations of the patient's family were karyotyped and her mother and brother were found to be balanced translocation carriers. From the patient's clinical examination