Molecular cytogenetic characterization of a 4p15.1‐pter duplication and a 4q35.1‐qter deletion in a recombinant of chromosome 4 pericentric inversion

To date, 10 cases of recombinant of chromosome 4 pericentric inversion involving sub‐bands p14p15 and q35 have been described. We report on the first case analyzed using array‐CGH in a female infant presenting psychomotor and growth retardation, facial anomalies, axial hypotonia, short neck, wide sp...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2009-02, Vol.149A (2), p.226-231
Main Authors: Maurin, M‐L., Labrune, P., Brisset, S., Le Lorc'h, M., Pineau, D., Castel, C., Romana, S., Tachdjian, G.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
array‐CGH
chromosome 4
Chromosome Aberrations
Chromosome Inversion
Chromosomes, Human, Pair 4
Cytogenetic Analysis
Developmental Disabilities - genetics
Female
Gene Duplication
Heart Defects, Congenital
Humans
Infant
Muscular Diseases - genetics
Pedigree
pericentric inversion
recombinant
Recombination, Genetic
Sequence Deletion
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Summary:To date, 10 cases of recombinant of chromosome 4 pericentric inversion involving sub‐bands p14p15 and q35 have been described. We report on the first case analyzed using array‐CGH in a female infant presenting psychomotor and growth retardation, facial anomalies, axial hypotonia, short neck, wide spaced nipples and cardiac defects. Conventional karyotype associated to FISH revealed a recombinant chromosome 4 with partial 4p duplication and 4q deletion derived from a paternal pericentric inversion. Array‐CGH allowed us to precise rec4 breakpoints: the proposita carried a small 4.82–4.97 Mb 4q35.1 terminal deletion and a large 35.3–36.7 Mb 4p15.1 terminal duplication. Duplications of the distal 2/3 of short arm of chromosome 4 give rise to recognizable craniofacial features but no specific visceral malformation. A contrario small terminal 4q deletions are associated with cardiac defects. This case and review of literature suggest that two genes ArgBP2 and PDLIM3, located at 4q35.1 and both involved in cardiac and muscle development, could be responsible for cardiac defects observed in terminal 4q35.1 deletions. © 2009 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32603