Biomaterial Database

Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly. 2001

C P Chen, and S R Chern, and C C Lee, and W L Chen, and W Wang

Department of Obstetrics and Gynecology, Mackay Memorial Hospital and National Yang-Ming University, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com

We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a second-trimester fetus with mosaic ring chromosome 13 and anencephaly. A 35-year-old, gravida 3, para 2 woman was referred for genetic counselling at 23 weeks' gestation because of an elevated maternal serum alpha-fetoprotein level of 2.386 multiples of the median. Prenatal ultrasonography showed intrauterine growth retardation and anencephaly. Amniocentesis revealed a karyotype of de novo mos 46,xx,r(13)(p11q32)/45,xx,-r(13) [corrected] (77%/23%). Molecular genetic analysis by quantitative fluorescent polymerase chain reaction (PCR) with small tandem repeat markers specific for chromosome 13 rapidly confirmed the maternal origin of the aberrant chromosome and determined the breakpoint at 13q32 between D13S225 (present) and D13S147 (absent). Our present finding indicates that anencephaly can be due to mosaic r(13) with a terminal deletion of 13q32-13q34 and an additional secondary rearrangement of loss of r(13). We propose that cytogenetic analysis is beneficial and warranted in pregnancies with fetal neural tube defects.

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D009030	Mosaicism	The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002882	Chromosomes, Human, Pair 13	A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.	Chromosome 13
D005260	Female		Females
D005317	Fetal Growth Retardation	Failure of a FETUS to attain expected GROWTH.	Growth Retardation, Intrauterine,Intrauterine Growth Retardation,Fetal Growth Restriction,Intrauterine Growth Restriction
D005865	Gestational Age	The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated from the onset of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization. It is also estimated to begin from fertilization, estrus, coitus, or artificial insemination.	Embryologic Age,Fetal Maturity, Chronologic,Chronologic Fetal Maturity,Fetal Age,Maturity, Chronologic Fetal,Age, Embryologic,Age, Fetal,Age, Gestational,Ages, Embryologic,Ages, Fetal,Ages, Gestational,Embryologic Ages,Fetal Ages,Gestational Ages
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man