Eric Engel

Pycnodysostosis, with a Familial Chromosome Anomaly*

Abstract A sixteen year old girl is described who had typical features of pycnodysostosis, a genetically determined disorder of bone which usually is inherited as a Mendelian recessive trait. The clinical findings included short stature, separated cranial sutures, dysplasia of the skull bones, flattened mandibular angle, partial aplasia of the terminal phalanges, generalized increase in bone density, persistent deciduous teeth and the occurrence of multiple fractures of the lower extremities. Karyotype analysis revealed an apparent short arm deletion of a small acrocentric chromosome in the patient and several normal relatives. It is suggested that the gene which determines pycnodysostosis is located on the short arm of a small acrocentric chromosome, probably G-22, and that the clinical findings in the patient were the result of full expression of a single recessive gene for pycnodysostosis in the region of autosomal hemizygosity caused by the deletion.

BLOOD AND SKIN CHROMOSOMAL ALTERATIONS OF A CLONAL TYPE IN A LEUKEMIC MAN PREVIOUSLY IRRADIATED FOR A LUNG CARCINOMA

It is known that irradiated individuals show persistent chromosomal damages and are at greater risk of developing leukemia. In the case reported here, chronic myelogenous leukemia was diagnosed in a m

Autosomal Deletion Mapping in Man

Two families were observed in which morphologically similar dele tions involving a G-group chromosome were associated in the propositi with con spicuous abnormalities in ossification of the skull. The findings suggest that specific genetic information relating to morphogenesis of the skull may be located on a G-group chromosome.

TWO LEUKEMIC PERIPHERAL BLOOD STEMLINES DURING ACUTE TRANSFORMATION OF CHRONIC MYELOGENOUS LEUKEMIA IN A D/D TRANSLOCATION CARRIER.

Two characteristic malignant cell lines were consistently found in each of two different studies performed at a three month interval in a 53-year-old white female with acute blastic transformation of

Is there an Embryo-Fetal Exogenous Sex Steroid Exposure Syndrome (Efesses)? * †

A survey of all outpatient cases referred for genetic counseling during a 10-month period has revealed a history of preconceptional and early gestational exposure to maternally administerd sex hormones in 16 of 91 instances. Particular interest was aroused by 9 of these 16 cases, all of whom were children with dysmorphic features, no cytogenetic anomalies by Giemsa banding studies, and no recognizable clinical diagnosis. Similarities among them were striking and consisted of varying combinations of the following features: moderate growth retardation; mild to severe mental retardation; facial elongation with frontal bossing; primary telecanthus and downward-slanting palpebral fissures; broad, flat, nose bridge and pug nose; pouting lower lip and blunt, square chin; umbilical eversion; deep sacral pit; and, in males, moderate to severe external genital anomalies ranging from mild hypospadias to genital ambiguity. This may suggest the existence of an embryo-fetal exogenous sex steroid exposure syndrome.

Human Cytogenetics: A Brief Review and Presentation of New Findings

A survey of human cytogenetics has been presented, including a discussion of terminology, normal karyotype, and the classic sex chromosome anomalies as well as a description of the autosomal trisomy and deletion syndromes. Several rare cases have been reported to illustrate translocation, double aneuploidy, pericentric inversions, and ring chromosome. The importance of chromosome defects in orthopaedics has been noted, and reasons have been given for believing that these aberrations may constitute a major cause of morbidity and mortality in man.

A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchange

The patient was initially seen at the age of 4 months for failure to gain weight and bilateral inguinal hernias. He was the first-born child of an 18-year-old mother and a 20-year-old father. The pregnancy was term and uncomplicated. Birth weight was 2,410 gm after a breech delivery. Development was apparently normal in the first three months but later leveled off; at 16 months he was unable to sit unassisted or to utter words. Growth and head circumference were in the fifth and tenth percentile, respectively. Pertinent physical findings included a height of 62.4 cm, weight of 5,795 gm, and head circumference of 38 cm. The head and face were abnormal: there were low-set, rounded, protruding ears with poorly developed anti-helix; a higharched, narrow palate; marked micrognathia; and a beaked nose (Fig. 1). The patient had bilateral inguinal hernias, a small penis, and a poorly developed scrotum. The fifth finger of each hand was incurved with a partial single crease on the right palm. There were syndactyly of the second and third toes on the right and of the third and fourth toes on the left. The hips could not be completely abducted (Roentgenograms revealed asymmetry of proximal femoral epiphyses.) An intravenous pyelogram demonstrated pelvocaliectasis and ureterectasis on the right, and a voiding cystourethrogram showed bilateral reflux of the low pressure type.

Assignment of the gene for glyoxalase I to region p21→pter of human chromosome 6

Using somatic cell hybrids between TK-deficient mouse cells and white blood cells derived from a patient with a translocation of the region p21→pter of chromosome 17, we have assigned the gene for hum