TY - JOUR
T1 - Cytogenomic delineation and clinical follow-up of two siblings with an 8.5Mb 6q24.2-q25.2 deletion inherited from a paternal insertion
AU - Meloni, Vera Ayres
AU - Guilherme, Roberta Santos
AU - Oliveira, Mariana Moyses
AU - Migliavacca, Michele
AU - Takeno, Sylvia Satomi
AU - Sobreira, Nara Lygia Macena
AU - de Fatima Faria Soares, Maria
AU - de Mello, Claudia Berlim
AU - Melaragno, Maria Isabel
PY - 2014/9
Y1 - 2014/9
N2 - The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta.
AB - The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta.
KW - Aortic coarctation
KW - Array
KW - Chromosome 6
KW - Clinical follow-up
KW - Congenital heart disease
KW - Cytogenomics
KW - Interstitial deletion
UR - http://www.scopus.com/inward/record.url?scp=84905922329&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84905922329&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36631
DO - 10.1002/ajmg.a.36631
M3 - Article
C2 - 24898331
AN - SCOPUS:84905922329
SN - 1552-4825
VL - 164
SP - 2378
EP - 2384
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -