Complete trisomy 9. Two additional cases

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.     

Mosaic trisomy 15 and hemihypertrophy.

We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. Post-natal blood karyotype and examination were normal. Mosaic was confirmed on skin fibroblasts, placenta and cord. Evolution was marked by progressive right hemi-hypertrophy, and developmental delay. Our case is the first patient reported with hemihypertrophy associated with mosaic trisomy 15. The relevant literature is reviewed.     

Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome

Summary Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9)(p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of the cardiovascular and urogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death. A possible relationship of some of these findings to regions of 9q involved in cases of partial trisomy 9 is suggested.     

Mosaic and non-mosaic trisomy 15q2

Two unrelated patients are presented. In the first mosaicism with normal cells and cells trisomic for the distal long arm (q2) of chromosome 15 was found. The 15q2 trisomy was due to a chromosome 14, to the long arm of which an extra 15q2 region was attached (14pter----14q32::15q22----15qter). In the second trisomy 15q2 was present as a consequence of a balanced t(7;15)(p22;q15) translocation in the mother.     

Two additional cases of autosomal trisomy, 61,XY,+12 and 61,XX,+12, in cattle]

Two new cases of trisomy of chromosome No. 12 in cattle are reported. The phenotypic effects of this chromosome aberration are described and discussed.     

Mosaic autosomal trisomy in cultures from spontaneous abortions.

In a consecutive series of 592 karyotyped spontaneous abortions, ten of 103 autosomal trisomies were mosaic, with a normal cell line also present. The frequency of mosaicism (10%) is much higher than that reported in Down syndrome, but similar to that reported in amniotic fluid cultures and in induced abortions. The most likely explanations for this discrepancy are (1) previous underestimation of mosaicism in live births or (2) mosaicism which is often restricted to extraembryonic fetal tissue.     

Four cases of trisomy 9p syndrome with particular chromosome rearrangements.

The authors present four children, two males and two females, with a 9p duplication, derived from various chromosome rearrangements, diagnosed using clinical, cytogenetic and biochemical evaluations. In particular, GALT dosage allowed them to define with accuracy the different chromosome break-points.     

Two cases of trisomy 21 and one XXY case with atypical clinical features

Summary Three patients with mental retardation and multiple congenital abnormalities are described.Although their clinical appearance was not suggestive of Down's syndrome, chromosome studies showed a non-disjunctional trisomy 21 in two of the patients. The third case had an unsuspected XXY karyotype.     

Partial trisomy 9 : clinical and cytogenetic correlations.

A study of three new cases with different trisomies involving chromosome 9 and a review of about 100 cases of partial trisomy 9 reported in the literature, suggested some cytogenetical and clinical correlations and lead us to propose the nomenclature of Rethore's syndrome type 1 and type 2.     

Partial trisomy 9q: a new syndrome.

Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q. The segment found to be trisomic in both patients is small and corresponds to the q31q32 region. This new syndrome is compared to observations of trisomy 9 reported in the literature.     

Partial trisomy 9q- chromosomal syndrome

Summary The clinical features consisting mainly of enophthalmos, beaked nose, narrow palpebral fissures, receding chin, long fingers and toes, typical for chromosomal syndrome of partial trisomy 9q, were confirmed in a new case.     

Prenatal diagnosis of trisomy 9.

A male karyotype with trisomy 9 (47,XY,+9) was identified in amniotic fluid cells from a 40-year-old pregnant woman. After termination of the pregnancy by saline abortion, the cytogenetic diagnosis was confirmed in a cell line grown from placental tissue. Microscopic and gross pathological findings in the fetus were compared to 1 case with trisomy 9 and 3 with trisomy 9 mosaicism reported in the literature. A distinct clinical syndrome appears to be associated with this rare autosomal trisomy.