Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).

Thanemozhi, G; Santhiya, S T; Chandra, N; Palka, G; Jayam, S; Gopinath, P M

Thanemozhi, G; Santhiya, S T; Chandra, N; Palka, G; Jayam, S; Gopinath, P M.

Indian J Pediatr ; 2000 Aug; 67(8): 601-4

Article in English | IMSEAR | ID: sea-79725

ABSTRACT

ABSTRACT

A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.

Subject(s)

Abnormalities, Multiple/diagnosis; Adult; Chromosome Aberrations/diagnosis; Chromosome Disorders; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 4; Fathers; Female; Foot Deformities, Congenital/genetics; Heart Defects, Congenital/genetics; Humans; In Situ Hybridization, Fluorescence; India; Infant, Newborn; Monosomy/diagnosis; Pedigree; Translocation, Genetic; Trisomy/diagnosis

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Pedigree / Translocation, Genetic / Trisomy / Abnormalities, Multiple / Chromosomes, Human, Pair 4 / Chromosomes, Human, Pair 18 / Female / Humans / Infant, Newborn / Foot Deformities, Congenital Country/Region as subject: Asia Language: English Journal: Indian J Pediatr Year: 2000 Type: Article

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