Chromosome 22 mosaic monosomy (46,XY/45,XY,-22)

A slightly dysmorphic and mentally defective child with mosaic monosomy 22 is reported. Chromosome 22 is absent in 10.5% of lymphocytes and 8.3% of fibroblasts. This is the second case report of that kind.     

A case of 46,XY/45,X/46,XX intersex

Summary A case of 46,XY/45,X/46,XX mosaicism in a phenotypic intersex is decribed in detail. A few relevant aspects, which emerge especially from the phenotypic and karyotypic analysis, are briefly commented upon.

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Zusammenfassung Es wird ein Fall von Mosaicismus 46,XY/45,X/46,XX beschrieben. Einige Aspekte, die aus der phänotypischen und karyotypischen Analyse des Patienten hervorgehen, sind kurz kommentiert.

     

New cytogenetic variant of Orbeli's syndrome (46,XY/45,XY,-D/46,XY,Dq+)

Summary A newborn child with multiple congenital abnormalities, including severe hypoplastic thumb and atresia recti, is described. The cytogenetic analysis revealed a mosaicism 46,XY/45,XY,-D/46,XY,Dq+. The combination of mosaic D-monosomy and two cardinal features of 13q-syndrome give the possibility to consider this case as new cytogenetical variant of the Orbeli's syndrome.

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Zusammenfassung Ein Neugeborenes mit multiplen kongenitalen Abnormitäten einschließ-lich erheblicher Hypoplasie der Daumen und Atresia recti wird beschrieben. Die cytogenetische Analyse ergab ein Mosaik 46,XY/45,XY,-D/46,XY,Dq+ Die Kombination von Mosaik D-Monosomie und den zwei Hauptsymptomen des 13q-Syndroms läßt in diesem Falle eine neue cytogenetische Variante des Orbeli-Syndroms vermuten.

     

Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21)

Summary A polymalformed newborn with partial monosomy for the long arm of chromosome 16 is presented. Karyotype 46,XX,del(16)(q21).     

Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:).

A 15-month-old male with a partial monosomy 9p is reported. The comparative analysis with other cases of 9p monosomy demonstrates a typical phenotype which when compared to that of 9p trisomy, permits the delineation of fifteen "type and contretype" signs.     

Partial trisomy 8q and partial monosomy 18p: a case report

We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.     

A case of true hermaphroditism with 45X/46XY mosaicism

Summary The authors describe a case of true hermaphroditism of mainly female phenotype, ambiguous external genitalia, and ovotestis. The cytogenetic studies revealed 45X/46XY mosaicism and an absence of Barr bodies.     

Twin pregnancy with complete hydatidiform mole (46,XX) and fetus (46,XY): genetic origin proved by analysis of chromosome polymorphisms.

In a case of complete hydatidiform mole with fetus the genetic origins were defined by the use of chromosomal polymorphisms. The fetus had a normal 46,XY karyotype with evidence of the presence of both maternal and paternal chromosomes. The mole was 46,XX and of androgenetic origin. There was no evidence of a maternal contribution, and duplication of paternal chromosomes was shown. In such atypical molar pregnancies examining genetic polymorphisms yields much more information than do sex chromosome studies and karyotyping, particularly in confirming the diagnosis and defining the origin and aetiology of the condition.