Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.

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Article

Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2007

Senses D A, Silan F, Uzun H, Alagöz D, Zafer C, Kocabay K, Karaüzüm S B, Cetin Z

Abstract excerpt

We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and...

Topics

Abnormalities, Multiple
Adult
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 5
Craniofacial Abnormalities
Facies
Female
Fetal Growth Retardation
Genetic Carrier Screening
Humans
Infant, Newborn
Karyotyping
Male
Phenotype
Translocation, Genetic
Trisomy

Source

Open in PubMed

Identifiers

PMID: 17710868

Provenance

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