Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 1165480

Trisomy 22.

H Zellweger·V Ionasescu·J Simpson
View original source ↗Export metadata ↓

Abstract

The existence of a trisomy 22 has been definitely established by newer methods of karyotype analysis which permit distinction between the acrocentric chromosomes of group G. Trisomy 22 is much rarer than trisomy 21. This report presents presumptive evidence that the cat eye syndrome (CES), the so-called "trisomy 22" (T22), the intermediate cases (IM) with cardinal symptoms of CES and T22, and some cases of mental retardation with rather unspecific symptoms are variants of the same disease entity. For T22, CES and one abortive case the extra chromosome was clearly identified as number 22 chromosome with or without partial deletion of the long arm. An interesting and presently not fully understood feature of trisomy 22 is its frequent familial incidence.

Explore related subjects

Abnormalities, MultipleAneuploidyAnus, ImperforateChromosomes, Human, 21-22 and YCleft PalateFemaleHumansIrisKaryotypingMaleMeiosisPedigreeSyndromeTrisomyJournal ArticleResearch Support, U.S. Gov't, Non-P.H.S.

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

H Zellweger, V Ionasescu, J Simpson. 1975. Trisomy 22.. https://pubmed.ncbi.nlm.nih.gov/1165480/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2003

Clinical and genetic aspects of trigonocephaly: a study of 25 cases.

We reviewed 25 patients ascertained through the finding of trigonocephaly/metopic synostosis as a prominent manifestation. In 16 patients, trigonocephaly/metopic synostosis was the only significant finding (64%); 2 patients had metopic/sagittal synostosis (8%) and in 7 patients the trigonocephaly was part of a syndrome (28%). Among the nonsyndromic cases, 12 were males and 6 were females and the sex ratio was 2 M:1 F. Only one patient with isolated trigonocephaly had an affected parent (5.6%). All nonsyndromic patients had normal psychomotor development. In 2 patients with isolated metopic/sagittal synostosis, FGFR2 and FGFR3 mutations were studied and none were detected. Among the syndromic cases, two had Jacobsen syndrome associated with deletion of chromosome 11q 23 (28.5%). Of the remaining five syndromic cases, different conditions were found including Say-Meyer syndrome, multiple congenital anomalies and bilateral retinoblastoma with no detectable deletion in chromosome 13q14.2 by G-banding chromosomal analysis and FISH, I-cell disease, a new acrocraniofacial dysostosis syndrome, and Opitz C trigonocephaly syndrome. The last two patients were studied for cryptic chromosomal rearrangements, with SKY and subtelomeric FISH probes. Also FGFR2 and FGFR3 mutations were studied in two syndromic cases, but none were found. This study demonstrates that the majority of cases with nonsyndromic trigonocephaly are sporadic and benign, apart from the associated cosmetic implications. Syndromic trigonocephaly cases are causally heterogeneous and associated with chromosomal as well as single gene disorders. An investigation to delineate the underlying cause of trigonocephaly is indicated because of its important implications on medical management for the patient and the reproductive plans for the family.

Abnormalities, Multiple↗
PubMed2003

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.

Mutations in the forkhead transcription factor gene 2 (FOXL2) were recently reported to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II. Evidence was provided that BPES type I (eyelid abnormalities and female infertility) is caused by mutations resulting in a truncated FOXL2 protein. In contrast, mutant FOXL2 proteins, either with inserted aminoacids in the forkhead domain or polyalanine tract, or with novel aminoacids at the carboxyl end, were found in BPES type II, in which fertility is generally normal. We report a 32-year-old female patient with sporadic BPES and a history of menstrual cycle irregularities and periods of secondary amenorrhoea. A heterozygous frameshift mutation (c959-960insG) was found in the FOXL2 gene, resulting in a predicted FOXL2 protein with 212 novel aminoacids in the carboxyl end, suggesting BPES type II despite menstrual irregularities. The clinical presentations of our patient and of three female patients with BPES type II in the report of De Baere et al. [2001: Hum Mol Genet 10:1591-1600.] indicate phenotypic overlap between BPES type I and II. These observations do not support a clear-cut prediction of female fertility based on the FOXL2 molecular defect. As a consequence, FOXL2 mutation testing in female patients of child-bearing age with BPES should be handled with caution, and a two-step genetic counseling approach, including an initial pre-test information session, is proposed.

Abnormalities, Multiple↗