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PubMed · 3874593

Complete trisomy 9. Two additional cases.

A Delicado·L Iñiguez·I Lopez Pajares·F Omeñaca
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Abstract

Two infants with complete trisomy of chromosome 9 are described. One patient, died a few minutes after birth and another survived 24 hours. The main clinical findings in this syndrome are: intrauterine growth retardation, characteristic facial dysmorphism, hypoplastic external genitalia and malformations of heart, brain and skeleton.

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Abnormalities, MultipleChromosomes, Human, 6-12 and XFaceFemaleFetal Growth RetardationGenitaliaHumansInfant, NewbornKaryotypingMalePregnancyTrisomyJournal Article

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A Delicado, L Iñiguez, I Lopez Pajares, F Omeñaca. 1985. Complete trisomy 9. Two additional cases.. https://pubmed.ncbi.nlm.nih.gov/3874593/

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FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes.

Only a few reports on supernumerary r(1) chromosomes associated with a clinical phenotype have been published. We describe two unrelated patients with congenital malformations and developmental delay who were found to have a de novo supernumerary r(1) in 50% (Case 1) and 80% (Case 2) of the examined cells. Conventional cytogenetic techniques (QFQ, CBG, and DA-DAPI), complemented by fluorescence in situ hybridization studies using alpha satellite probes, showed that both small marker chromosomes (SMCs) primarily consisted of the centromere and heterochromatin of chromosome 1, a conclusion that was also supported by chromosome 1 painting. In an attempt to establish phenotype-genotype correlations, a further investigation was performed using YACs mapped to the chromosome 1 pericentromeric region. A fluorescent signal was evident after hybridization with Y934G9 (1q21) in Case 1 and Y959C4 (1p11.1-12) in Case 2. Partial trisomy of unique sequences flanking pericentromeric sequences is shown to underlie the clinical phenotype in both patients. This evidence should be taken into account when SMCs are ascertained, particularly in prenatal diagnosis.

Abnormalities, Multiple↗