Abstract A physical disruption of the Prader‐Willi syndrome (PWS) chromosome region is thought to cause PWS. We describe 2 girls with PWS phenotype, who had unique chromosome 15 abnormalities. The first patient showed mosaicism: 45,XX,t(15;15)(qter→p11.1::q11.200→ qter)/46,XX,t(15;15)(qter → p11.1::q11.200→ qter), + mar. The band 15q11.2 apparently remained intact in the t(15;15) chromosome, and the mar chromosome was considered as r(15) (p11.1q11.1). The second patient had a karyo‐type of 47,XX,del(15)(q11.200→q11.207), + idic (15)(pter → q11.1::q11.1→pter). The complex breakage and reunion involving the 15q11.2 regions of the father's homologous chromosomes 15 at meiosis appeared to have resulted in the idic(15) and the del(15) chromosomes. These cytogenetic findings suggest that the PWS chromosome region may be localized on the very proximal portion of band 15q11.2.
Angular distributions for the $^{124}\mathrm{Sn}(p, t)$ reaction to low-lying ${3}^{\ensuremath{-}}$, ${4}^{+}$, ${5}^{\ensuremath{-}}$, ${6}^{+}$, ${7}^{\ensuremath{-}}$, ${8}^{+}$, and ${10}^{+}$ two-quasiparticle states of $^{122}\mathrm{Sn}$ were measured at ${E}_{p}=34.9, 45.1, 54.7, \mathrm{and} 65.0$ MeV and analyzed with zero-range distorted-wave Born approximation theory. The shapes of the angular distributions are reasonably well reproduced with the zero-range theory using one average optical potential set and the deduced enhancement factors are almost constant with smoothly decreasing zero-range normalization constants as a function of the incident energy.NUCLEAR REACTIONS $^{124}\mathrm{Sn}(p, t)$, ${E}_{p}=34.9, 45.1, 54.7, \mathrm{and} 65.0$ MeV; measured $\ensuremath{\sigma}({E}_{t}, \ensuremath{\theta})$ absolute. DWBA analysis, zero-range, energy dependence of enhancement factors. Enriched target.
Abstract Two patients with monosomy for the distal portion of the short arm of chromosome 3 are described. Chromosome analysis on prometaphase cells demonstrated a karyotype of 46,XX, del(3) (p25.3) in one patient and 46,XX, r(3)(p26.1q29) in the other. The former patient showed characteristic clinical manifestations of the 3p‐ syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, downturned mouth, micrognathia, apparently lowset and malformed ears, finger abnormalities, and deafness. The latter patient had a nonspecific phenotype with mental retardation, growth failure and microcephaly. Karyotypephenotype comparisons in the present cases and 16 previously reported cases with deficiency of the distal portion of 3p suggests that deficiency of the 3p25.3 band is critical to produce the main clinical manifestations of the del(3p) syndrome.
Pulsed field gel electrophoresis (PFGE) was used to construct genomic maps of different HLA-D region haplotypes. In the course of these experiments a new HLA class II beta chain sequence, DV beta, was located close to DX alpha between DX alpha and DQ beta. All other markers studied, from the DP, DZ/DO, DQ and DR subregions, were consistent in their positions in the haplotypes studied but the distance between DQ alpha and DR alpha differed in various haplotypes. For example, in DR7 (MANN) this distance was approximately 380 kb, but in the DR2 haplotype (AKIBA), it was 270 kb. This may be due to variations, either in the number of duplicated DRB genes or in the length of other uncharted DNA, in the HLA-D region.
Abstract The occurrence of interchange trisomy due to a 3:1 malsegregation has been documented in only a few cases with trisomy 21. We describe the first case of interchange trisomy 9 due to a maternal t(6; 9) translocation. The patient, a boy neonate who died immediately after birth, had intra‐uterine growth retardation, specific craniofacial features including microcephaly with a high forehead, low‐set ears, upslanting short palpebral fissures, microphthalmia, bulbous nose and micrognathia, cryptorchidism, cystic kidney and various skeletal anomalies. His phenotype was consistent with that of the trisomy 9 syndrome. Cytogenetic analysis showed his karyotype of 47,XY,‐6, + der(6), + der(9)t(6; 9)(q27;q21.1)mat. The present report indicates that a very rare interchange mode of a 3:1 segregation can give rise to a live birth with full trisomy 9 in female carriers with reciprocal translocations involving the proximal long arm of chromosome 9.
