2051/2881. Cytogenetic studies in a case of T-cell prolymphocytic leukemia. The authors describe cytogenetic aberrations observed in a case of T prolymphocytic leukemia. C11 deletion (q14) B5 deletion (pter), D14q , E20 trisomy, and two markers are the main anomalies of the complement. ( info) |
2052/2881. Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment. Seven patients are described who have some or all of the symptoms of prader-willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the prader-willi syndrome. ( info) |
2053/2881. De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14). A male neonate with severe malformations, including facial dysmorphism, a short neck, postaxial-hexadactyly of the toes, congenital heart disease, hydronephrosis, imperforate anus and agenesis of corpus callosum, is described. His karyotype was 46,XYdel(2)(q12q14). ( info) |
| A male infant showed features of the prader-willi syndrome (including profound hypotonia, cryptorchidism, and mildly dysmorphic facial appearance) but also had additional multiple malformations (congenital heart disease, unilateral renal malmigration, and bifid uvula). A deletion of the long arm of chromosome 15, larger than that usually demonstrated in children with prader-willi syndrome, was found. The cytogenetic findings suggest that the infant's hypotonia and cryptorchidism are explicable on the basis of the portion of the deletion usually associated with prader-willi syndrome (q11 to q12) but that his other features could be secondary to effects of the more distal region of the deleted segment (q13 to q15). ( info) |
2055/2881. Familial t(4;13) with abnormal offspring in three generations. A newborn infant girl died at 1 day and was found to have severe intrauterine growth retardation, microcephaly, cleft lip and palate, single umbilical artery, absent thumbs, bicuspid pulmonic valve, pulmonary hypoplasia, malrotation of large and small bowel, and a 46,XX,13q chromosome constitution derived from a paternal t(4;13)(q25;q32) with resulting del(13q) and dup(4q). The paternal grandmother and great-grandmother also carried the balanced translocation. Each had had a child with multiple congenital anomalies including "duplex" thumbs. However, a chromosome analysis was not performed on these abnormal infants. Our patient's clinical and cytogenetic manifestations are discussed in relation to the Niebuhr map of chromosome 13. ( info) |
2056/2881. Yq deletion with short stature, abnormal male development, and schizoid character disorder. A 33-year-old male with short stature, abnormal male sexual differentiation, aspermia, and schizoid character disorder is described, who had a y chromosome with a deleted long arm. The correlation of the symptoms, including the psychotic abnormality, with the cytogenetic finding is discussed. ( info) |
2057/2881. Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11). A boy with a de novo translocation (5;22) and isochromosome 5p associated with a pericentric inversion of chromosome 2 (p21q11) is described. The pericentric inversion was also present in the mother. The main clinical features of the 'complete trisomy 5p' syndrome were present in the proband. ( info) |
2058/2881. Interstitial deletion for a region in the long arm of chromosome 16. An infant with an interstitial deletion of chromosome 16 is reported. He showed severe psychomotor retardation and multiple congenital anomalies (craniofacial dysmorphism, cleft palate, endocardial cushion defect, preaxial polydactyly of one hand, low total ridge count). Unbanded chromosome studies following amniocentesis failed to identify the deletion. This case is very similar to other cases in the literature which were reported first by Fryns et al. (1977). ( info) |
2059/2881. Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet. ( info) |
2060/2881. A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism. A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, -13, 13qter leads to cen::13q13 leads to qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed. We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements. ( info) |