A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
OBJECTIVE
To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2).


MATERIALS AND METHODS
A 13-year-old girl was referred to the hospital because of autism, mental retardation, and difficulty in the self-care of her menstruation. Cytogenetic analysis revealed an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12) (q24.3;p11.2)dn. The girl manifested microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease, bilateral clinodactyly of the fifth fingers, bilateral pes cavus, learning difficulties, mental retardation, emotional instability, cognitive impairment, behavior problems, jumping-like gaits, and autistic spectrum disorder. aCGH was performed to evaluate genomic imbalance in this patient.


RESULTS
aCGH analysis revealed a 1.37-Mb 12p11.22-p11.21 microdeletion or arr [hg 19] 12p11.22-p11.21 (30,645,008-32,014,774)×1 and a 367-kb 22q11.21 microduplication or arr [hg 19] 22q11.21 (18,657,470-19,024,306)×3. The 1.37-Mb 12p11.22-p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11, and the 367-kb 22q11.21 microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2.


CONCLUSION
An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22-p11.21 microdeletion and 22q11.2 microduplication.
['Chen|Chih-Ping|CP|', 'Lin|Shuan-Pei|SP|', 'Chern|Schu-Rern|SR|', 'Wu|Peih-Shan|PS|', 'Su|Jun-Wei|JW|', 'Lee|Chen-Chi|CC|', 'Wang|Wayseen|W|']
D059786:Abnormal Karyotype D000015:Abnormalities, Multiple D000293:Adolescent D001321:Autistic Disorder D002872:Chromosome Deletion D058674:Chromosome Duplication D002881:Chromosomes, Human, Pair 12 D002892:Chromosomes, Human, Pair 22 D055028:Comparative Genomic Hybridization D053487:DEAD-box RNA Helicases D004265:DNA Helicases D004062:DiGeorge Syndrome D005260:Female D017353:Gene Deletion D006801:Humans D008607:Intellectual Disability D008598:Menstruation D012648:Self Care
22q11.2 duplication autism DDX11 12p11.22–p11.21 deletion