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

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

doi:10.1007/BF02758495

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

Indian J Pediatr. 2000 Aug;67(8):601-4. doi: 10.1007/BF02758495.

Authors

G Thanemozhi¹, S T Santhiya, N Chandra, G Palka, S Jayam, P M Gopinath

Affiliation

¹ Department of Genetics, Dr. A.L.M. Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai, India.

PMID: 10985005
DOI: 10.1007/BF02758495

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics*
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*
Trisomy / genetics