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Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly.
Taiwan J Obstet Gynecol. 2010 Sep; 49(3):320-6.TJ

Abstract

OBJECTIVE

To present the prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation (DWM), abnormal skull development, microcephaly and multiple congenital anomalies.

MATERIALS, METHODS AND RESULTS

A 42-year-old woman, gravida 6, para 1, was referred for amniocentesis at 18 weeks of gestation because of her advanced maternal age. Amniocentesis revealed an aberrant derivative chromosome 13, or der(13). The parental karyotypes were normal. Spectral karyotyping showed that the der(13) was derived from a translocation of chromosomes 7 and 13. Fluorescence in situ hybridization using subtelomeric probes revealed three signals of 7pTEL and only one signal of 13qTEL, indicating a translocation between 7p and 13q in the der(13). Array-based comparative genomic hybridization demonstrated partial trisomy 7p (7p15.3-p22.3) and partial monosomy 13q (13q33.3-q34). The karyotype was 46,XY,der(13)t(7;13)(p15.3;q33.3). Polymorphic DNA marker analysis revealed the paternal origin of the aberrant chromosome. Level II ultrasound at 24 weeks of gestation revealed microcephaly, an irregular-shaped skull, DWM, nuchal edema and transposition of the great arteries.

CONCLUSION

Spectral karyotyping, fluorescence in situ hybridization and array-based comparative genomic hybridization are useful for prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) can be associated with DWM, microcephaly, abnormal skull development, nuchal edema and cardiovascular defects on prenatal ultrasound.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

21056318

Citation

Chen, Chih-Ping, et al. "Prenatal Diagnosis and Molecular Cytogenetic Characterization of De Novo Partial Trisomy 7p (7p15.3→pter) and Partial Monosomy 13q (13q33.3→qter) Associated With Dandy-Walker Malformation, Abnormal Skull Development and Microcephaly." Taiwanese Journal of Obstetrics & Gynecology, vol. 49, no. 3, 2010, pp. 320-6.
Chen CP, Chen M, Su YN, et al. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. Taiwan J Obstet Gynecol. 2010;49(3):320-6.
Chen, C. P., Chen, M., Su, Y. N., Tsai, F. J., Chern, S. R., Hsu, C. Y., Wu, P. C., Town, D. D., Lee, D. J., Ma, G. C., & Wang, W. (2010). Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. Taiwanese Journal of Obstetrics & Gynecology, 49(3), 320-6. https://doi.org/10.1016/S1028-4559(10)60068-X
Chen CP, et al. Prenatal Diagnosis and Molecular Cytogenetic Characterization of De Novo Partial Trisomy 7p (7p15.3→pter) and Partial Monosomy 13q (13q33.3→qter) Associated With Dandy-Walker Malformation, Abnormal Skull Development and Microcephaly. Taiwan J Obstet Gynecol. 2010;49(3):320-6. PubMed PMID: 21056318.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. AU - Chen,Chih-Ping, AU - Chen,Ming, AU - Su,Yi-Ning, AU - Tsai,Fuu-Jen, AU - Chern,Schu-Rern, AU - Hsu,Chin-Yuan, AU - Wu,Pei-Chen, AU - Town,Dai-Dyi, AU - Lee,Dong-Jay, AU - Ma,Gwo-Chin, AU - Wang,Wayseen, PY - 2010/04/15/accepted PY - 2010/11/9/entrez PY - 2010/11/9/pubmed PY - 2011/2/25/medline SP - 320 EP - 6 JF - Taiwanese journal of obstetrics & gynecology JO - Taiwan J Obstet Gynecol VL - 49 IS - 3 N2 - OBJECTIVE: To present the prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation (DWM), abnormal skull development, microcephaly and multiple congenital anomalies. MATERIALS, METHODS AND RESULTS: A 42-year-old woman, gravida 6, para 1, was referred for amniocentesis at 18 weeks of gestation because of her advanced maternal age. Amniocentesis revealed an aberrant derivative chromosome 13, or der(13). The parental karyotypes were normal. Spectral karyotyping showed that the der(13) was derived from a translocation of chromosomes 7 and 13. Fluorescence in situ hybridization using subtelomeric probes revealed three signals of 7pTEL and only one signal of 13qTEL, indicating a translocation between 7p and 13q in the der(13). Array-based comparative genomic hybridization demonstrated partial trisomy 7p (7p15.3-p22.3) and partial monosomy 13q (13q33.3-q34). The karyotype was 46,XY,der(13)t(7;13)(p15.3;q33.3). Polymorphic DNA marker analysis revealed the paternal origin of the aberrant chromosome. Level II ultrasound at 24 weeks of gestation revealed microcephaly, an irregular-shaped skull, DWM, nuchal edema and transposition of the great arteries. CONCLUSION: Spectral karyotyping, fluorescence in situ hybridization and array-based comparative genomic hybridization are useful for prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) can be associated with DWM, microcephaly, abnormal skull development, nuchal edema and cardiovascular defects on prenatal ultrasound. SN - 1875-6263 UR - https://www.unboundmedicine.com/medline/citation/21056318/Prenatal_diagnosis_and_molecular_cytogenetic_characterization_of_de_novo_partial_trisomy_7p__7p15_3→pter__and_partial_monosomy_13q__13q33_3→qter__associated_with_Dandy_Walker_malformation_abnormal_skull_development_and_microcephaly_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1028-4559(10)60068-X DB - PRIME DP - Unbound Medicine ER -