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Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability.
Taiwan J Obstet Gynecol. 2016 Dec; 55(6):856-860.TJ

Abstract

OBJECTIVE

We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8.

MATERIALS AND METHODS

An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy.

RESULTS

Array comparative genomic hybridization analysis of the blood revealed a result of arr 8p11.22q11.21 (39,136,065-49,725,726)×2.80 (Log2 ratio=0.49), consistent with 70-80% mosaicism, encompassing 33 OMIM genes including GOLGA7, AGPAT6, NKX6-3, KAT6A, and FNTA. The sSMC(8) was r(8)(::p11.22→q11.21::). Metaphase fluorescence in situ hybridization analysis using the probes of RP11-754D24 (8p11.21) and RP11-769N21 (8q11.21) showed the sSMC(8) in 12/27 of cultured lymphocytes. Quantitative fluorescent polymerase chain reaction analysis excluded uniparental disomy 8.

CONCLUSION

Mosaic sSMC(8) derived from r(8)(::p11.22→q11.21::) can be associated with obesity, intellectual disability, and attention deficit hyperactivity disorder.

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; Department of Early Childhood Care, National Taipei University of Nursing and Health Sciences, 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, Mackay Memorial Hospital, Taipei, Taiwan.Department of Medical Research, MacKay Memorial Hospital, Taipei, 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

Language

eng

PubMed ID

28040133

Citation

Chen, Chih-Ping, et al. "Molecular Cytogenetic Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived From Chromosome 8 or R(8)(::p11.22→q11.21::) in an 18-year-old Female With Short Stature, Obesity, Attention Deficit Hyperactivity Disorder, and Intellectual Disability." Taiwanese Journal of Obstetrics & Gynecology, vol. 55, no. 6, 2016, pp. 856-860.
Chen CP, Lin SP, Chern SR, et al. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability. Taiwan J Obstet Gynecol. 2016;55(6):856-860.
Chen, C. P., Lin, S. P., Chern, S. R., Wu, P. S., Chen, Y. N., Chen, S. W., Yang, C. W., Lee, M. S., & Wang, W. (2016). Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability. Taiwanese Journal of Obstetrics & Gynecology, 55(6), 856-860. https://doi.org/10.1016/j.tjog.2016.08.003
Chen CP, et al. Molecular Cytogenetic Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived From Chromosome 8 or R(8)(::p11.22→q11.21::) in an 18-year-old Female With Short Stature, Obesity, Attention Deficit Hyperactivity Disorder, and Intellectual Disability. Taiwan J Obstet Gynecol. 2016;55(6):856-860. PubMed PMID: 28040133.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability. AU - Chen,Chih-Ping, AU - Lin,Shuan-Pei, AU - Chern,Schu-Rern, AU - Wu,Peih-Shan, AU - Chen,Yen-Ni, AU - Chen,Shin-Wen, AU - Yang,Chien-Wen, AU - Lee,Meng-Shan, AU - Wang,Wayseen, PY - 2016/08/30/accepted PY - 2017/1/2/entrez PY - 2017/1/4/pubmed PY - 2017/7/14/medline KW - attention deficit hyperactivity disorder KW - intellectual disability KW - obesity KW - ring chromosome 8 KW - small supernumerary marker chromosome SP - 856 EP - 860 JF - Taiwanese journal of obstetrics & gynecology JO - Taiwan J Obstet Gynecol VL - 55 IS - 6 N2 - OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy. RESULTS: Array comparative genomic hybridization analysis of the blood revealed a result of arr 8p11.22q11.21 (39,136,065-49,725,726)×2.80 (Log2 ratio=0.49), consistent with 70-80% mosaicism, encompassing 33 OMIM genes including GOLGA7, AGPAT6, NKX6-3, KAT6A, and FNTA. The sSMC(8) was r(8)(::p11.22→q11.21::). Metaphase fluorescence in situ hybridization analysis using the probes of RP11-754D24 (8p11.21) and RP11-769N21 (8q11.21) showed the sSMC(8) in 12/27 of cultured lymphocytes. Quantitative fluorescent polymerase chain reaction analysis excluded uniparental disomy 8. CONCLUSION: Mosaic sSMC(8) derived from r(8)(::p11.22→q11.21::) can be associated with obesity, intellectual disability, and attention deficit hyperactivity disorder. SN - 1875-6263 UR - https://wwww.unboundmedicine.com/medline/citation/28040133/Molecular_cytogenetic_characterization_of_mosaicism_for_a_small_supernumerary_marker_chromosome_derived_from_chromosome_8_or_r_8__::p11_22→q11_21::__in_an_18_year_old_female_with_short_stature_obesity_attention_deficit_hyperactivity_disorder_and_intellectual_disability_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1028-4559(16)30198-X DB - PRIME DP - Unbound Medicine ER -