Allan J. Ebbin

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

SummaryClinical and cytogenetic studies are reported on 13 patients with Wolf-Hirschhorn syndrome. The oldest of the living twelve probands is 24 years of age. Three of these patients has a translocation involving the short arm of chromosome 4, and in one of these the anomalous chromosome was inherited from the father. Another three patients were believed, on the basis of GTG-staining, to have a translocation although the origin of the translocated chromatin could not be identified. In the remaining seven patients the anomalous chromosome appeared to be a simple deletion, although in two cases a translocation could not be reled out. Cytogenetic studies in these patients suggest that the critical deletion involved in Wolf-Hirschhorn syndrome is within 4p 16.

Chromosomal anomalies in patients with retinoblastoma

Karyotypes from 50 persons with retinoblastoma confirmed by histopathological examination were studied by conventional staining and Giemsa‐banding techniques. Two chromosomal anomalies were found. An interstitial deletion of the long arm of No. 13 chromosome was identified by Giemsa‐banding in the karyotypes from a boy with unilateral retinoblastoma. Another boy with unilateral tumor had a karyotype of 47, XXY. These findings provide additional evidence that a deletion of chromosome No. 13, most likely involving band 13q14, is associated with the development of retinoblastoma. In conjunction with other reports, our findings also suggest that retinoblastoma may be found more frequently in children with chromosomal aneuploidy.

Inherited partial duplication of chromosome No. 15

A boy with unusual facial appearance and mental retardation was found to have duplication for the distal half of the long arm of chromosome No. 15 and possibly deficiency for the distal end of the long arm of No. 21. The chromosome abnormality was inherited from his mother, who had a translocation involving chromosomes Nos. 15 and 21. Giemsa-banding localized the break point in chromosome No. 15 just distal to the intense band at the midportion of the long arm. The break point in chromosome No. 21 appeared to be at the distal end of the long arm. The difficulty encountered in cytogenetic analysis of the propositus with conventional staining, the importance of chromosome analysis of the parents, and the application of differential staining techniques are also presented.

Inadvertent rubella immunization in pregnancy

Abstract Sixty women inadvertently immunized with live rubella vaccine within 90 days before or during pregnancy have been studied. Only 9 of the women were known to be susceptible to rubella prior to immunization. Of these, 6 had normal infants, 1 had a therapeutic abortion, and 2 had spontaneous abortions. Of the remaining 51 women with unknown immune status, 33 were delivered of apparently normal infants and 14 had therapeutic (13) or spontaneous (1) abortions. In addition, the outcome of 4 pregnancies was as follows: one set of twins, a term infant who died at 5 days from hyaline membrane disease, a small premature infant who died, and an infant with a heart murmur. Of the pregnancies that were terminated, in 2 instances rubella virus was isolated from tissue removed at therapeutic abortion. In one instance the virus is probably “wild,” representing natural infection. In the other instance, the virus appears to be of vaccine origin. Histologic examination of abortus tissue revealed nonspecific inflammatory changes in 2 of the known rubella-susceptible women, in 6 in whom the susceptibility was unknown, and in 2 of 5 products of conception obtained from nonimmunized women having therapeutic abortions. No definite statement can be made regarding the embryopathic potential of the rubella vaccine from these data.

Trisomy 13 in Two Infants with Cyclops

Two infants with cyclops malformation were born at the University of Southern California Medical Center during the past three years. The karyotypes of both infants demonstrated an extra chromosome No. 13: one with 47,XX,+13 and one with 46,XX,-14,+t(13q14q). The physical findings, karyotypes with trypsin-Giemsa banding, and association of trisomy 13 syndrome with cyclops malformation are presented.

Prenatal Diagnosis of an Inherited Translocation Between Chromosomes No. 9 and 18

A phenotypically normal woman has an apparently balanced reciprocal translocation between chromosomes No. 9 and No. 18 (translocation 9p-; 18p+), which was transmitted in an unbalanced state to an infant and a fetus. In the latter instance, chromosome analysis of cultured amniotic cells disclosed an abnormal karyotype, which was identical to that of the first affected child. The therapeutically aborted fetus was grossly abnormal and resembled the affected child. The physical features noted are those frequently associated with chromosome abnormalities, although not diagnostic for any specific syndrome. We presume that the chromosome abnormality in the affected offspring represents partial duplication of the short arm of chromosome No. 9 and partial deletion of the short arm of chromosome No. 18. No marked resemblance is noted between these cases and reported cases of trisomy 9 or of partial deletion of the short arm of 18.

Dominant Inheritance of Absence of the Breast

SummaryA family is described in which congenital absence or hypoplasia of one or both breats was reported in 7 individuals throughout 4 generations. As far as is known, the affected individuals had no other significant anomalies and no evidence of generalized ectodermal dysplasia. Failure of breast development in this family is most likely an autosomal or X-linked dominant disorder.ZusammenfassungEs wird eine Familie beschrieben, bei der angeborenes Fehlen oder Hypoplasie einer oder beider Brüste bei 7 Individuen in 4 Generationen beschrieben wurde. Soweit bekannt ist, hatten die befallenen Personen keine anderen bemerkenswerten Anomalien, insbesondere keine Zeichen für eine generalisierte ektodermale Dysplasie. Das Ausbleiben der Brustentwicklung ist in dieser Familie sehr wahrscheinlich autosomal dominant oder x-chromosomal dominant erblich.

Deficits in Space‐form Perception in Patients with Sex Chromosome Mosaicism (45, X/46, XY)

Several studies have shown that selective deficits in space‐form perception are found in patients with Turners syndrome, associated with 45,X or a structural anomaly of an X chromosome. The authors sought to determine whether significant deviations from normal or from Turners syndrome (relative to space perception) occur when a Y chromosome is present.

An inherited 1;G translocation.

A child with multiple congenital anomalies and retardation was found to have a translocation involving chromosome No. 1 and a chromosome of the G group. The affected child has a minute centric fragment of unknown origin in addition to the 1;G translocation. Although the translocation is found throughout 4 generations, the child described here is the only known instance of fetal abnormality in this family. To our knowledge there are only three other reports of a translocation between chromosome No. 1 and a G chromosome (Kontras et al, 1966; Maganias et al, 1967; Wilson, 1969). In two of these families the translocation was transmitted from mother to child. In this family the translocation is transmitted from both male

Isolated gonadal sex chromosome mosaicism in primary amenorrhea

in the right lower quadrant of the abdomen and there Table I. Cytogenetic studies ., was no evidence of malrotation or other congenital anomalies of the gastrointestinal tract. There was no evidence of needle penetration of the abdominal cavity, which might have occurred at the time of amniocen., tesis. This case demonstrates an unusual presentation of presumed cystic fibrosis with meconium ileus and volvulus which led to ischemic infarction and perforation of the small bowel. A more definitive diagnosis of cystic fibrosis would be supported by a positive sweat test or family history, neither of which was present in this patient. The perforation was followed by chemical peritonitis, massive abdominal distention in utero, and obstructed labor. This case likewise emphasizes the need to consider the presence of other fetal anomalies, such as omphalocele or gastroschisis, when the usual maneuvers fail to relieve shoulder dystocia. Chwmosame analyses: Peripheral lymphocytes Repeat lymphocytes Skin fibroblasts Left ovary