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Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH.
J Matern Fetal Neonatal Med. 2009 Nov; 22(11):1014-20.JM

Abstract

OBJECTIVE

We investigated the application of microarray-based comparative genomic hybridization (array CGH) on a fetus showing hemivertebrae and intra-abdominal mass at 15 weeks.

METHODS

Conventional karyotyping and high-resolution array CGH techniques using 244K CGH microarray were performed to investigate the possibility of genomic imbalance on the opted chorionic villus sample.

RESULTS

G-banded fetal chromosome analysis showed 46,XY,der(6)t(6;7)(q26;q31.2)pat. Whole genome scan by array CGH fine mapped the origin of the aberrant chromosomes to be a partial single copy gain of 42.5 Mb from chromosome region 7:116266547 --> qter and concurrent partial single copy loss of 8.1 Mb from chromosome region 6:162756975 --> qter. Pathological examination of the abortus showed gastrointestinal malformations, hemivertebrae with scoliosis, clinodactyly and club feet.

CONCLUSIONS

Prenatal and perinatal findings of concurrent trisomy 7q and monosomy 6q were unique. This study demonstrated array CGH can interrogate the entire genome at a resolution and rapidity unattainable by conventional cytogenetic techniques and may have wide application in prenatal diagnosis.

Authors+Show Affiliations

Fetal Medicine Unit, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

19900039

Citation

Choy, Kwong Wai, et al. "Prenatal Findings and Delineation of De Novo Concurrent Partial Trisomy 7q(7q31.2 --> Qter) and Partial Monosomy 6q(6q26 --> Qter) By High-resolution Array CGH." The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, vol. 22, no. 11, 2009, pp. 1014-20.
Choy KW, Chan LW, Tang MH, et al. Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH. J Matern Fetal Neonatal Med. 2009;22(11):1014-20.
Choy, K. W., Chan, L. W., Tang, M. H., Ng, L. K., Leung, T. Y., & Lau, T. K. (2009). Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH. The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 22(11), 1014-20. https://doi.org/10.3109/14767050902994812
Choy KW, et al. Prenatal Findings and Delineation of De Novo Concurrent Partial Trisomy 7q(7q31.2 --> Qter) and Partial Monosomy 6q(6q26 --> Qter) By High-resolution Array CGH. J Matern Fetal Neonatal Med. 2009;22(11):1014-20. PubMed PMID: 19900039.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH. AU - Choy,Kwong Wai, AU - Chan,Lin Wai, AU - Tang,Mary H Y, AU - Ng,Lucy K L, AU - Leung,Tak Yeung, AU - Lau,Tze Kin, PY - 2009/11/11/entrez PY - 2009/11/11/pubmed PY - 2009/12/16/medline SP - 1014 EP - 20 JF - The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians JO - J Matern Fetal Neonatal Med VL - 22 IS - 11 N2 - OBJECTIVE: We investigated the application of microarray-based comparative genomic hybridization (array CGH) on a fetus showing hemivertebrae and intra-abdominal mass at 15 weeks. METHODS: Conventional karyotyping and high-resolution array CGH techniques using 244K CGH microarray were performed to investigate the possibility of genomic imbalance on the opted chorionic villus sample. RESULTS: G-banded fetal chromosome analysis showed 46,XY,der(6)t(6;7)(q26;q31.2)pat. Whole genome scan by array CGH fine mapped the origin of the aberrant chromosomes to be a partial single copy gain of 42.5 Mb from chromosome region 7:116266547 --> qter and concurrent partial single copy loss of 8.1 Mb from chromosome region 6:162756975 --> qter. Pathological examination of the abortus showed gastrointestinal malformations, hemivertebrae with scoliosis, clinodactyly and club feet. CONCLUSIONS: Prenatal and perinatal findings of concurrent trisomy 7q and monosomy 6q were unique. This study demonstrated array CGH can interrogate the entire genome at a resolution and rapidity unattainable by conventional cytogenetic techniques and may have wide application in prenatal diagnosis. SN - 1476-4954 UR - https://www.unboundmedicine.com/medline/citation/19900039/Prenatal_findings_and_delineation_of_de_novo_concurrent_partial_trisomy_7q_7q31_2___>_qter__and_partial_monosomy_6q_6q26___>_qter__by_high_resolution_array_CGH_ L2 - https://www.tandfonline.com/doi/full/10.3109/14767050902994812 DB - PRIME DP - Unbound Medicine ER -