A Male Infant with Holoprosencephaly, Associated with Ring Chromosome 21

Overview

Journal Clin Genet

Specialty Genetics

Date 1987 Jan 1

PMID 3568433

Citations 9

Authors

D C Aronson

M C Jansweijer

J M Hoovers

P G Barth

Affiliations

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Abstract

An infant with holoprosencephaly and a karyotype 46,XY,r(21) is reported. No distinctive craniofacial features suggesting holoprosencephaly were present in this infant who presented with epilepsy, microcephaly and scoliosis with hemivertebra Th 10. This is the first report which links deletion of chromosome 21q to the holoprosencephaly phenotype.

Citing Articles

Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21.

Moon J, Yum S Children (Basel). 2023; 10(9).

PMID: 37761422 PMC: 10529320. DOI: 10.3390/children10091461.

Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.

Powel J, Sham C, Spiliopoulos M, Ferreira C, Rosenthal E, Sinkovskaya E Clin Genet. 2022; 102(4):262-287.

PMID: 35802600 PMC: 9830455. DOI: 10.1111/cge.14188.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Dobyns W, Mirzaa G, Christian S, Petras K, Roseberry J, Clark G Am J Med Genet A. 2008; 146A(13):1637-54.

PMID: 18536050 PMC: 2801020. DOI: 10.1002/ajmg.a.32293.

Holoprosencephaly.

Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V Orphanet J Rare Dis. 2007; 2:8.

PMID: 17274816 PMC: 1802747. DOI: 10.1186/1750-1172-2-8.

Telomeres: a diagnosis at the end of the chromosomes.

de Vries B, Winter R, Schinzel A, van Ravenswaaij-Arts C J Med Genet. 2003; 40(6):385-98.

PMID: 12807958 PMC: 1735506. DOI: 10.1136/jmg.40.6.385.