Ichiro Matsui

A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

Five unrelated patients with a previously unrecognized mental retardation malformation syndrome are presented. Clinical features common to them include moderate mental retardation, postnatal dwarfism, susceptibility to infection in infancy, and peculiar craniofacial dysmorphia characterized by long palpebral fissures, high-arched and abnormal eyebrows, heavy and long eyelashes, large ears, short nasal septum and/or depressed nasal tip, and cleft palate. Other anomalies are stubby fingers, deformed vertebra and other bone and joint anomalies, and abnormal dermatoglyphics. The absence of familial occurrence and of consanguinity suggests some environmental causation, but the possibility of an autosomal dominant or X-linked mode of inheritance remains. Based upon our five patients and other five of Niikawa et al, we propose this syndrome as a new disease entity.

A 6p trisomy detected in a family with a “giant satellite”

SummaryA very large (giant) satellite was observed on one of the D-group chromosomes of a malformed and mentally retarded infant and her father. Detailed cytogenetic studies revealed that the giant satellite represented, in fact, a der(15) chromosome of translocation t(6;15)(p21;p12 or 13). The proposita was trisomic for a part of 6p(6pter → 6p21). The father was a balanced carrier, however, the deletion of the short arm of a No. 6 was hard to detect in routine karyotype analysis.

A case of partial trisomy 3q

A case report on an infant with trisomy of the long arm of chromosome No. 3 is presented. The condition has not been described previously.

A mentally retarded boy with a minute Y chromosome

A case is described of a boy aged 29 months with mental retardation, muscular hypotonia, and other minor congenital defects. Chromosomal studies, based on peripheral blood culture and direct bone marrow preparations, revealed 45 chromosomes and an additional minute chromosome. There appeared to be a normal complement of autosomes and an X chromosome. The minute centric element was interpreted as a portion of the Y chromosome. The role of Y chromosome in the development of the human male is discussed.

Two cases of 8p trisomy in one sibship

Two cases of 8p trisomy in one sibship are presented. The father was a balanced carrier of a translocation rep (8;13) (p11; q34). Case 1 was a 2‐year‐old boy with multiple minor anomalies and severe mental retardation. Giemsa banding studies revealed that he was trisomic for the greater part of 8p (8p11 → pter). When his mother became pregnant again, amniocentesis was carried out in the 17th week of gestation. The fetus (Case 2) was shown to have the same 8p trisomy as Case 1. The pregnancy was terminated in the 22nd week. An autopsy revealed no major anomalies. Clinical features of cases with 8 and 8p trisomy are reviewed briefly.

Down syndrome and maternal age in Japan, 1950–1973

The mean maternal age and the percentage age distribution of 2,650 mothers of children with Down syndrome were calculated for 1950–1973, from hospital records. Mean maternal age has dropped both for controls (28.55→27.37) and Down syndrome (31.26→29.59). The observed maternal age distributions were very similar to those expected in corresponding periods, from the age specific incidences of Collmann & Stoller (1962).

Ring 18 Mosaicism in Identical Twins

SummaryMale identical twins with r(18)/normal mosaicism are reported. Twin 1 has the characteristic manifestations of the r(18) syndrome, but twin 2 shows a normal phenotype. Cytogenetic study of cultured lymphocytes revealed that the proportions of r(18) are 19.7% and 19.2%, respectively. However in the fibroblast cultures, the ring is observed in 51% of cells in twin 1 and in 0% in twin 2. The mechanism of the occurrence of the discrepant phenotypes in the twins is discussed.

Down's syndrome: chromosome analysis in 321 cases in Japan.

Received May 28, 1969. * All correspondence to M.H. at Department of Pathology, The Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto 2, Ontario, Canada. t Present Address: Department ofHuman Genetics, University of Michigan, U.S.A. affected individuals, and whenever possible ofthe parents of all children found to have a translocation; the translocated chromosomes were identified by labelling pattern with tritiated thymidine (Higurashi et al., 1967).

Three Translocations Involving C- or G-group Chromosomes

Three translocations each involving C or G chromosomes are reported. A familial translocation t(Cq+; Eq−) was identified to be rcp(6;18) (q2;q1) and two malformed children were then found to have a 46,XY(or XX),−6, +der(6) constitution. One of the carriers pregnancy in this family was monitored by amniocentesis and a fetus was identified as being a male translocation carrier (balanced). Two other translocations were identified as rcp(11;14) (q12 or 13;q32?) and t(17;22) (p12 or 13?;q11?), respectively.

PSYCHOSOCIAL PROBLEMS OF CHILDREN AND ADOLESCENTS WITH A CHRONIC DISEASE :COPING STRATEGIES

The purpose of this pilot study was to identify the coping strategies used by children, adolescents and youths with insulin dependent diabetes mellitus (IDDM) attending a camp for IDDM patients near Ryosen town, Fukushima Prefecture, Japan.