BIOMAT Database Logo BIOMAT Database Logo

Prenatal diagnosis of a fetus with partial monosomy 7(q34-->qter) and partial trisomy 18(q21-->qter). 1993

E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Service d'Histologie Embryologie et Cytogénétique, Faculté de Médecine, Université de Bretagne Occidentale, Brest, France.

Ultrasound examination of a 31-year-old woman at 27 weeks' gestation revealed fetal growth retardation, a bilateral cleft lip and palate, and the absence of median cerebral structures. Chromosome analysis after cordocentesis showed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7: 46,XX,-7,+der(7),t(7;18) (q34;q21.3)mat. The pregnancy was terminated at week 29. The ultrasound findings were confirmed by post-mortem examination, which also revealed a semilobar holoprosencephaly.

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
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
D011262 Pregnancy Trimester, Second The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation. Midtrimester,Pregnancy, Second Trimester,Trimester, Second,Midtrimesters,Pregnancies, Second Trimester,Pregnancy Trimesters, Second,Second Pregnancy Trimester,Second Pregnancy Trimesters,Second Trimester,Second Trimester Pregnancies,Second Trimester Pregnancy,Second Trimesters,Trimesters, Second
D002871 Chromosome Banding Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping. Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18
D002897 Chromosomes, Human, Pair 7 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 7
D002971 Cleft Lip Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft
D002972 Cleft Palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft
D005260 Female Females

Related Publications

E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Prenatal diagnosis of partial trisomy 10q (10q25.3-->qter) and partial monosomy 18q (18q23-->qter).
November 2005, Prenatal diagnosis,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Prenatal diagnosis of a micropenis in a male fetus with partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->ter-->qter).
August 2006, Prenatal diagnosis,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter) in a fetus associated with cystic hygroma and ambiguous genitalia.
June 2005, Prenatal diagnosis,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype.
February 2015, Clinical case reports,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.
October 1999, Prenatal diagnosis,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation.
April 2000, Prenatal diagnosis,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Prenatal diagnosis of partial trisomy 3q(3q22-->qter) and monosomy 6q(6q25.3-->qter) in a fetus with sonographic findings of cystic hygromata colli and unilateral pleural effusion.
January 2001, Prenatal diagnosis,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
[A case with partial trisomy 7 (q34→qter) derived from a paternal reciprocal translocation t(7;14)(q34;q32)].
December 2011, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Partial trisomy 22q12----qter in prenatal diagnosis.
May 1991, Prenatal diagnosis,
E Pluchon, and Y Giovangrandi, and F Labbe, and M J Le Bris, and M Collet, and J P Brettes, and D Riviere, and M R Riviere
Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
April 2006, Prenatal diagnosis,
Copied contents to your clipboard!