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Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly.
Clin Genet. 1996 Nov; 50(5):321-6.CG

Abstract

Chromosome aberrations, mendelian mutations and exogenous agents can cause holoprosencephaly. Therefore, etiologic evaluation of holoprosencephaly is necessary for obstetricians and genetic counselors, once a prenatal diagnosis of holoprosencephaly has been made. We present four pregnancies in three women in which routine sonographic examinations led to the prenatal diagnosis of holoprosencephaly. Prenatal cytogenetic analysis and fluorescence in situ hybridization demonstrated a 46,XY,del(7)(pter-->q32:) and a 46,XY,der(2)t(2;3)(q37;p21)pat karyotype respectively in two fetuses with cyclopia, and a 46,XX,der(2)t(2;3)(q37;p21)pat and a 46,XX,der(7)t(3;7)(p23;q36) karyotype respectively in two fetuses with premaxillary agenesis. In conclusion, terminal deletion 7q and partial trisomy 3p in holoprosencephalic fetuses indicates that genes contributing to craniofacial development reside in these critical regions. Proper prognostic evaluation in further pregnancies requires expertise in cytogenetics and genetic counseling.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9007318

Citation

Chen, C P., et al. "Prenatal Diagnosis of Terminal Deletion 7q and Partial Trisomy 3p in Fetuses With Holoprosencephaly." Clinical Genetics, vol. 50, no. 5, 1996, pp. 321-6.
Chen CP, Liu FF, Jan SW, et al. Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly. Clin Genet. 1996;50(5):321-6.
Chen, C. P., Liu, F. F., Jan, S. W., Lin, C. L., & Lan, C. C. (1996). Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly. Clinical Genetics, 50(5), 321-6.
Chen CP, et al. Prenatal Diagnosis of Terminal Deletion 7q and Partial Trisomy 3p in Fetuses With Holoprosencephaly. Clin Genet. 1996;50(5):321-6. PubMed PMID: 9007318.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly. AU - Chen,C P, AU - Liu,F F, AU - Jan,S W, AU - Lin,C L, AU - Lan,C C, PY - 1996/11/1/pubmed PY - 1996/11/1/medline PY - 1996/11/1/entrez SP - 321 EP - 6 JF - Clinical genetics JO - Clin Genet VL - 50 IS - 5 N2 - Chromosome aberrations, mendelian mutations and exogenous agents can cause holoprosencephaly. Therefore, etiologic evaluation of holoprosencephaly is necessary for obstetricians and genetic counselors, once a prenatal diagnosis of holoprosencephaly has been made. We present four pregnancies in three women in which routine sonographic examinations led to the prenatal diagnosis of holoprosencephaly. Prenatal cytogenetic analysis and fluorescence in situ hybridization demonstrated a 46,XY,del(7)(pter-->q32:) and a 46,XY,der(2)t(2;3)(q37;p21)pat karyotype respectively in two fetuses with cyclopia, and a 46,XX,der(2)t(2;3)(q37;p21)pat and a 46,XX,der(7)t(3;7)(p23;q36) karyotype respectively in two fetuses with premaxillary agenesis. In conclusion, terminal deletion 7q and partial trisomy 3p in holoprosencephalic fetuses indicates that genes contributing to craniofacial development reside in these critical regions. Proper prognostic evaluation in further pregnancies requires expertise in cytogenetics and genetic counseling. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/9007318/Prenatal_diagnosis_of_terminal_deletion_7q_and_partial_trisomy_3p_in_fetuses_with_holoprosencephaly_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1996&volume=50&issue=5&spage=321 DB - PRIME DP - Unbound Medicine ER -