Fluorescence in situ hybridisation on formalin fixed fetal tissue in the diagnosis of chromosomal syndromes. 1994

J M Cobben, and C E Essed, and J Hirdes, and R A Kraayenbrink, and A Van der Veen
Department of Medical Genetics, Groningen, The Netherlands.

Two cases of stillborn children with multiple congenital anomalies are presented. No routine karyotyping was performed. After dysmorphologic evaluation a tentative diagnosis of trisomy 18 and triploidy, respectively, could be made. Fluorescence in situ hybridisation with several chromosome specific probes on formalin fixed paraffin embedded tissue confirmed the suspected diagnosis in both cases. In view of the important consequences for the parents (relatively low recurrence risk, availability of prenatal diagnosis in subsequent pregnancies) fluorescence in situ hybridisation for the common chromosomal aneuploidies should be performed in selected cases of stillborn fetuses with multiple congenital malformations.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D011003 Ploidies The degree of replication of the chromosome set in the karyotype. Ploidy
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
D011884 Radius The outer shorter of the two bones of the FOREARM, lying parallel to the ULNA and partially revolving around it. Radial Tuberosity,Radial Tuberosities,Tuberosities, Radial,Tuberosity, Radial
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18
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
D004480 Ectromelia Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia. Amelia,Congenital Limb Reduction Deformities,Congenital Limb Reduction Deformity,Hemimelia,Phocomelia,Sirenomelia,Fused Legs and Feet,Mermaid Malformation,Mermaid Syndrome,Sirenomelia Sequence,Sirenomelus,Malformation, Mermaid,Sequence, Sirenomelia,Sirenomelia Sequences,Syndrome, Mermaid

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