Partial deletion of the short arm of chromosome 8]

Partial monosomy 8p is reported in a patient with mild mental deficiency and a facial dysmorphia (a triangular mandible and a peculiarly shaped nose with straight parallel margins).     

Duplication-deficiency of the short arm of chromosome 8 following artificial insemination.

A chromosomally abnormal child with psychomotor retardation and multiple anomalies, including agenesis of the corpus callosum and cleft palate, was born following artificial insemination by donor. Chromosomal and conventional markers were used to ascertain paternity. Various banding techniques were employed to identify the origin of the extra chromosomal material as most likely a duplication-deficiency of the short arm of chromosome No. 8.     

Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation

Summary 4 patients trisomic for the short arm of a chromosome No. 9 due to segregation of paternal translocations were described recently by Rethoré and associates. In this context, we report on a retarded child, in whom the examination of lymphocyte and fibroblast metaphases revealed the existence of an additional small acrocentric marker chromosome. Cytogenetic data do not exclude the possibility of the marker to be derived from a chromosome No. 9 which exhibits, in the father, a more conspicuous secondary constriction than usual. A breakage event at this site and subsequent non-disjunction of the centric fragment (i.e. chromosome 9 short arm) during paternal gametogenesis could have given rise to the child's chromosomal constitution.This assumption is supported by the presence of clinical features in the patient held to be characteristic for the 9p trisomy phenotype by Rethoréet al.: facial dysmorphia with mild hypertelorism and deep set eyes, a globulous nose and an abnormal anthelix. In addition, the severely retarded patients exhibit to a variant degree hypoplasia of phalanges, abnormalities of finger creases and disturbances of palmar ridge patterns, all of which were not typically expressed in our patient.

---

Zusammenfassung Rethoré u. Mitarb. beschrieben kürzlich 4 Patienten, bei denen auf Grund familiärer Translokations-Heterozygotie jeweils eine Trisomie für den kurzen Arm eines Chromosoms 9 angenommen werden kann. In diesem Zusammenhang berichten wir über ein retardiertes Kind, das in Lymphocyten und Fibroblasten ein zusätzliches kleines akrozentrisches Chromosom aufweist. Die cytogenetische Analyse, darunter die Beobachtung einer prominenten constriktion an einem Chromosom Nr. 9 beim Vater des Patienten, lassen die Herkunft des kindlichen Markers von dem kurzen Arm dieses Chromosoms möglich erscheinen: ein hypothetisches Bruchereignis im Bereich der Constriktion und nachfolgende meiotische Non-Disjunktion werden diskutiert.Die Annahme einer Trisomie für den kurzen Arm eines Chromosoms 9 wird bei dem hier vorgestellten Patienten unterstützt durch das Vorhandensein von Merkmalen, die nach Rethoré u. Mitarb. für das Trisomie 9p-Syndrom sprechen. Im Kopfbereich sind das vor allem: kleine Orbita, angedeuteter Hypertelorismus, ballenartige Nasenkuppe sowie auffällige Anthelixkonfiguration. Im Extremitätenbereich zeigen die erheblich geistig retardierten Patienten in variablem Ausmaß eine Hypoplasie der Phalangen sowie abnorme Beugefalten und reduktion oder Fehlen der palmaren Triradii.

     

Complete or partial trisomy for the long arm of chromosome 1 in patients with various hematologic malignancies

This study contains data obtained from a cytogenetic investigation of six patients with acute and chronic leukaemia. The karyotypes of bone marrow or blood cells of these patients showed a partial or complete trisomy for the long arm of chromosome 1. Three observations revealed a pronounced resistance of cell clones with 1q+ towards cytostatic therapy, and a comparatively short life span of patients after detection of 1q+. The importance of these changes for the role of some chromosomes and chromosome loci in leukaemogenesis is discussed.     

Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p

Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p: We report on a girl with multiple congenital abnormalities and a prenatally diagnosed 46,XX,14p+ de novo karyotype. Fluorescence in situ hybridization (FISH) demonstrated that the extra material on the short arm of chromosome 14 was not just a polymorphism, but that it originated from chromosome 17. The phenotypic findings of this patient with pure trisomy 17p are compared with those of ten previously published cases.     

Mewing cry in a child with the partial deletion of the short arm of chromosome No. 4

Summary A case is presented of partial deletion of the short arm of the chromosome No. 4, but with a mewing cry, typical of the 5p — deletion syndrome. The clinical examination revealed similar features to those described in other cases of 4p — deletion, namely low birth weight, hypertelorism, facial asymmetry, failure to thrive, mental retardation, beak-shaped nose, low set ears, broad nasal bridge, skeletal anomalies and hypotony. The mewing character of the voice was confirmed by analysis of the voice spectrum. The deleted chromosome was identified by the measurement technique.     

Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1

A case with an apparently balanced reciprocal translocation between the long arm of the Y chromosome and the short arm of chromosome 1 t(Y;1)(q11.2;p34.3) is described. The translocation was found in a phenotypically normal male ascertained by infertility and presenting for intra-cytoplasmatic sperm injection treatment. Histological examination of testicular biopsies revealed spermatogenic failure. Chromosome painting with probes for chromosome 1 and for the euchromatic part of the Y chromsome confirmed the translocation of euchromatic Y chromosomal material onto the short arm of chromosome 1 and of a substantial part of the short arm of chromosome 1 onto the Y chromosome. Among the Y/autosome translocations, the rearrangements involving long arm euchromatin of the Y chromosome are relatively rare and mostly associated with infertility. Microdeletion screening at the azoospermia locus revealed no deletions, suggesting another mechanism causing infertility in this translocation carrier.     

Mapping the short arm of human chromosome 16

Physical mapping of 13 different breakpoints on the short arm of chromosome 16 using previously mapped probes and the subsequent mapping of additional probes enabled the division of this portion of the chromosome into six different intervals. D16S94 was mapped between HBA and D16S80 and is closer to PKD1 than either HBA or D16S80. A tight linkage group which includes FRA16A, D16S8, and D16S79 was identified. Seven breakpoints, including FRA16A, could not be separated by probe localizations. This study provides the basis for the development of detailed maps of the short arm of chromosome 16.