A Unique Genomic Variant of HDR Syndrome in Newborn.

Abstract

BACKGROUND:

HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.

CASE CHARACTERISTICS:

A male preterm infant presented with multiple dysmorphic features characterized by small for gestational age, hypognathia and facial abnormalities.

OBSERVATION:

Investigations revealed hypocalcemia and low parathyroid hormone levels and bilateral sensorineural deafness.

OUTCOME:

Chromosomal microarray analysis revealed a combination of deletion on chromosome 10p (10p15.3p14) with loss of GATA3 gene and duplication of chromosome 20p (20p13p12.3) as a result of unbalanced 10:20 translocation.

MESSAGE:

Detecting this syndrome at neonatal age is very important because it allows early intervention to minimize future clinical problems.

• Authors: Ramesh Vidavalur, Srisatish Devapatla
• Journal: Indian pediatrics (Indian Pediatr) Vol. 55 Issue 8 Pg. 705-706 (Aug 15 2018) ISSN: 0974-7559 [Electronic] India
• PMID: 30218523 (Publication Type: Case Reports, Journal Article)

Chemical References

• GATA3 Transcription Factor
• GATA3 protein, human
• Genetic Markers

Topics

• Base Sequence
• Chromosomes, Human, Pair 10
• Chromosomes, Human, Pair 20
• GATA3 Transcription Factor (genetics)
• Genetic Markers
• Hearing Loss, Sensorineural (diagnosis, genetics)
• Humans
• Hypoparathyroidism (diagnosis, genetics)
• Infant, Newborn
• Infant, Premature
• Infant, Premature, Diseases (diagnosis, genetics)
• Male
• Nephrosis (diagnosis, genetics)
• Sequence Deletion
• Trisomy (diagnosis)