A Case of Chromosome 1q44 Deletion with Microcephaly and Multiple Congenital Anomalies.
10.14734/kjp.2014.25.2.95
- Author:
Jeong Eun LEE
1
;
Jong Sik JUNG
;
Ga Won JEON
;
Jong Beom SIN
Author Information
1. Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea. iamgawon@hanmail.net
- Publication Type:Case Report
- Keywords:
Deletion 1q44;
Chromosome 1;
Developmental disability;
Microcephaly;
Oligonucleotide array sequence analysis
- MeSH:
Chromosome Disorders;
Chromosomes, Human, Pair 1;
Cleft Palate;
Comparative Genomic Hybridization;
Corpus Callosum;
Developmental Disabilities;
Diagnosis;
Extremities;
Female;
Foot;
Genitalia;
Heart;
Humans;
In Situ Hybridization, Fluorescence;
Infant;
Intellectual Disability;
Korea;
Microcephaly*;
Oligonucleotide Array Sequence Analysis;
Phenotype;
Seizures;
Single Umbilical Artery
- From:Korean Journal of Perinatology
2014;25(2):95-99
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The 1q terminal deletion syndrome is a rare chromosomal disorder which was first reported by Mankinen et al. in 1976. This disorder has shown to have broad and diverse clinical phenotypes. Specific phenotypes of 1q terminal deletion syndrome include microcephaly, seizures, psychomotor retardation, growth retardation, abnormalities of extremities, corpus callosum, heart and genitalia. Although this disorder has diverse clinical manifestations, almost all cases of 1q44 deletion syndrome have growth, psychomotor, and mental retardation and progressive microcephaly. The first diagnosis of 1q44 deletion syndrome in Korea was made by fluorescent in situ hybridization analysis in a 4-month-old girl with craniofacial anomalies, multiple congenital anomalies, and growth and psychomotor retardation. We report the second domestic case of 1q44 deletion syndrome with cleft palate, facial dysmorphism, single umbilical artery, foot abnormality, progressive microcephaly, growth and psychomotor retardation which was confirmed by microarray for comparative genomic hybridization. We also compare this case with previously reported cases of 1q44 deletion syndrome.
