<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>We made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a <italic>de novo</italic> trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.</p></abstract>

We made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a de novo trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.

Clinical Manifestations of Partial Trisomy 4p

Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey

Department of Gynecology and Obstetrics, Faculty of Medicine, Çukurova University, Adana, Turkey

Vocational School of Health Services, Adıyaman University, Adıyaman, Turkey

Balkan Journal of Medical Genetics

{"article-title":"Clinical Manifestations of Partial Trisomy 4p"}

We made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom...

Clinical Manifestations of Partial Trisomy 4p

Pubblicato online: 20 gen 2011

Pagine: 61 - 63

DOI: https://doi.org/10.2478/v10034-010-0028-2

Parole chiave
Partial trisomy 4p, Prenatal diagnosis, Congenital heart defects, Lung and kidney hypoplasia

This content is open access.

Clinical Manifestations of Partial Trisomy 4p

Pubblicato online: 20 gen 2011

Pagine: 61 - 63

DOI: https://doi.org/10.2478/v10034-010-0028-2

Parole chiavePartial trisomy 4p, Prenatal diagnosis, Congenital heart defects, Lung and kidney hypoplasia

This content is open access.

Parole chiave
Partial trisomy 4p, Prenatal diagnosis, Congenital heart defects, Lung and kidney hypoplasia