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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.
Taiwan J Obstet Gynecol 2014; 53(1):74-8TJ

Abstract

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.

Authors+Show Affiliations

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.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.Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.Gene Biodesign Co. Ltd, Taipei, Taiwan.Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24767651

Citation

Chen, Chih-Ping, et al. "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." Taiwanese Journal of Obstetrics & Gynecology, vol. 53, no. 1, 2014, pp. 74-8.
Chen CP, Lin SP, Chern SR, et al. 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. Taiwan J Obstet Gynecol. 2014;53(1):74-8.
Chen, C. P., Lin, S. P., Chern, S. R., Wu, P. S., Su, J. W., Lee, C. C., & Wang, W. (2014). 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. Taiwanese Journal of Obstetrics & Gynecology, 53(1), pp. 74-8. doi:10.1016/j.tjog.2013.10.037.
Chen CP, et al. 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. Taiwan J Obstet Gynecol. 2014;53(1):74-8. PubMed PMID: 24767651.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Chen,Chih-Ping, AU - Lin,Shuan-Pei, AU - Chern,Schu-Rern, AU - Wu,Peih-Shan, AU - Su,Jun-Wei, AU - Lee,Chen-Chi, AU - Wang,Wayseen, PY - 2013/10/21/accepted PY - 2014/4/29/entrez PY - 2014/4/29/pubmed PY - 2015/3/31/medline KW - 12p11.22–p11.21 deletion KW - 22q11.2 duplication KW - DDX11 KW - autism SP - 74 EP - 8 JF - Taiwanese journal of obstetrics & gynecology JO - Taiwan J Obstet Gynecol VL - 53 IS - 1 N2 - 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. SN - 1875-6263 UR - https://www.unboundmedicine.com/medline/citation/24767651/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_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1028-4559(14)00017-5 DB - PRIME DP - Unbound Medicine ER -