ABSTRACT
Turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full Turner syndrome and one (DM) without. TS has short stature, skeletal anomalies, lymphogenic obstruction, cardiovascular abnormalities, and miscellaneous features including pigmented naevi, antimongoloid slanting of the palpebral fissures, and widely spaced nipples. In contrast, DM has short stature but no other specific Turner stigmata except high arched palate and a few pigmented naevi. Since little chromosomal mosaicism was detected, the different segments of the Y chromosome retained by these two males identify the location of one or more "anti-Turner" genes. Most of the Yp pseudoautosomal region and Yq were deleted from both patients during the formation of the ring chromosome, while the Y specific portion of Yp and the centromere were retained. The major difference detected was an interval of proximal Yq present in DM and deleted in TS. None of the previously identified genes, DFFRY, DBY, UTY, or TB4Y, lies entirely within this interval, although DFFRY was truncated by DM's breakpoint. These data suggest that one or more additional "anti-Turner" gene(s) remains to be identified in the region of Yq proximal to DFFRY.
Subject(s)
Growth Disorders/genetics , Turner Syndrome/genetics , Y Chromosome , Adolescent , Adult , Child , Chromosome Banding , Growth Disorders/blood , Humans , Male , Nevus, Pigmented/genetics , Phenotype , Testosterone/blood , Turner Syndrome/bloodABSTRACT
There is increasing evidence that, similar to what is found with other genetic disorders, genomic instability is one of the most general features of cancer. Different forms of manifestation including latent instability have been suggested. To recognize latent chromosomal instability we treated lymphocyte cultures of cancer patients and healthy persons with caffeine, two different doses of bleomycin, and a combination of bleomycin and caffeine. The preliminary results demonstrate that, although the rate of spontaneous chromosomal aberrations is similar in both investigated groups, the lymphocytes of cancer patients display an increased susceptibility to treatment with bleomycin and caffeine. In distinguishing between healthy individuals and those with malignancy, treatment with 30 micrograms/ml bleomycin appears to be most important. Values of chromosomal change above one break per cell, more than 45% cells with chromosomal alterations, and more that two cells with chromosomal rearrangements are suggestive of malignancy. These findings imply that treatment of lymphocyte cultures with bleomycin and caffeine could be a useful assay for monitoring chromosomal instability, and thus detecting a predisposition to malignant disease. In this respect further investigations on a greater amount of material should be performed.
Subject(s)
Chromosome Aberrations , Neoplasms/genetics , Adult , Age Factors , Aged , Carcinoma, Renal Cell/genetics , Chromatids , Chromosome Deletion , Chromosome Inversion , Female , Humans , Kidney Neoplasms/genetics , Male , Middle Aged , Neoplasm Staging , Neoplasms/pathology , Reference Values , Translocation, GeneticABSTRACT
A four-month-old girl with facial dysmorphism, moderate mental retardation, immune deficiency (decreased IgG and IgA and absence of IgM), centromeric instability of chromosomes 1, 9, 16 and very rarely of chromosome 2, and disposition to formation of multibranched chromosomal figures, is described. The case is the fifth described with such chromosomal and immune abnormalities, which prove the existence of a new syndrome. The authors suggest an autosomal recessive inheritance.
Subject(s)
Centromere , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 16 , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 9 , Chromosomes , Immunologic Deficiency Syndromes/genetics , Abnormalities, Multiple/genetics , Chromosome Banding , Chromosome Disorders , Female , Humans , InfantABSTRACT
A trisomy of the distal long arm of chromosome 15(q21 leads to qter) resulting in similar phenotypic and developmental abnormalities in two related children (a boy and a girl) is described. The chromosome defect was due to malsegregation of a balanced translocation (5;15)(p14;q21) in one of the parents. It was inherited in four generations and accompanied by recurrent miscarriages. Comparison of these patients with four previously published cases of trisomy 15q dist reveals a pattern of common features including: microdolichocephaly with characteristic strikingly protuberant occiput and predominance of the visceral over the cerebral cranium; peculiar facial dysmorphism--narrow antimongoloid palpebral fissures; large, malformed, low-set ears; micrognathy; long philtrum; short neck; cardiopathy; profound encephalopathy with lack of suck and swallow reflexes; and no growth retardation.
Subject(s)
Chromosomes, Human, 13-15 , Trisomy , Abnormalities, Multiple/genetics , Abortion, Spontaneous/genetics , Chromosome Banding , Female , Humans , Infant, Newborn , Karyotyping , Male , Pedigree , PregnancyABSTRACT
A 2-year-old girl with a prabable trisomy-22 translocation is described. The principal clinical symptoms described by the authors who have reported cases with proved trisomy 22 are presented. A probable 46,XX,-21,+t(21q;22q) karyotype was established in the patient. The proband's clinical picture is compared with other trisomy 22 cases described in the literature. The incidence of this trisomy among the human population is discussed.
