A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia.
Interstitial deletions of 14q including band 14q31 are uncommon. We report on a 3 year-old Tunisian girl who had a de novo interstitial deletion of the long arm of chromosome 14. The molecular cytogenetic study has identified the deletion as a del(14)(q24.3q32.2) covering nearly 24Mb. This abnormality was associated to phenotypic manifestations, mainly peculiar face, developmental delay and hypoplastic corpus callosum.
Ouertani
Ines
I
Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia. nannoussa5@yahoo.fr
Chaabouni
Myriam
M
Turki
Ilhem
I
Lelorc'h
Marc
M
Attié-Bitach
Tania
T
Ben Jemaa
Lamia
L
Khouja-Gouider
Neziha
N
Chaabouni
Habiba
H
D061085:Agenesis of Corpus Callosum; D001483:Base Sequence; D002675:Child, Preschool; D019457:Chromosome Breakage; D020223:Chromosome Painting; D022202:Chromosomes, Artificial, Bacterial; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000473:pathology; D020732:Cytogenetic Analysis; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005220:Fathers; D005260:Female; D016650:Fluorescein-5-isothiocyanate / Q000378:metabolism; D005456:Fluorescent Dyes / Q000378:metabolism; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D011859:Radiography; D012235:Rhodamines / Q000378:metabolism; D017384:Sequence Deletion; D014416:Tunisia
D005456:Fluorescent Dyes; D012235:Rhodamines; C009434:tetramethylrhodamine isothiocyanate; D004247:DNA; D016650:Fluorescein-5-isothiocyanate