Korean J Perinatol.  2014 Jun;25(2):95-99. 10.14734/kjp.2014.25.2.95.

A Case of Chromosome 1q44 Deletion with Microcephaly and Multiple Congenital Anomalies

• Lee JE
• Jung JS
• Jeon GW
• Sin JB

• KMID: 2280960
• DOI: http://doi.org/10.14734/kjp.2014.25.2.95

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.

Keyword

Deletion 1q44; Chromosome 1; Developmental disability; Microcephaly; Oligonucleotide array sequence analysis

MeSH Terms

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

Figure

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  Fig. 1. Clinical features of the patient. (A) Upslanting palpabral fissure, periorbital fullness, telecathus, short and broad nose, flat nasal bridge, thin upper lip, downturned corners of the mouth. (B) Prominent coronal suture, sparse, fine hair, low set ear, micrognathia, retrognathia. (C) Cleft palate. (D) Rocker-bottom feet.

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  Fig. 2. Cytogenetic microarray reveals chromosome 1q44 deletion.

Reference

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