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).


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.


CONCLUSIONS
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.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Chih-Ping
CP
Chen
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan.
Shuan-Pei
SP
Lin
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
Schu-Rern
SR
Chern
Gene Biodesign Co. Ltd, Taipei, Taiwan.
Peih-Shan
PS
Wu
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
Jun-Wei
JW
Su
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Chen-Chi
CC
Lee
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
Wayseen
W
Wang
D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D053487:DEAD-box RNA Helicases / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008598:Menstruation; D012648:Self Care
D004265:DNA Helicases; C101830:DDX11 protein, human; D053487:DEAD-box RNA Helicases
12p11.22–p11.21 deletion; 22q11.2 duplication; DDX11; autism