Normal male development with Y chromosome long arm deletion (Yq-).

(1972). Identifications of reciprocal translocation chromosomes by quinacrine fluorescence.cence patterns of the human metaphase chromosomes-distinguishing characters and variability. Hereditas, Genetiskt Arkiv, 67, 89-102. in the 13-15 group as a cause of partial trisomy and spontaneous abortion in the same family. (1960). Multiple congenital anomaly caused by an extra auto-some. Lancet, 1, 790-793. Taylor, A. (1968). Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. Many observers have reported the variability in Y chromosome length and the apparent lack of any phenotypic effect attributable to a very long Y. Short Y chromosomes have been found in normal fertile males (Borgaonkar et al, 1969) as well as in families with diminished fertility (Muldal and Ockey, 1962). Large deletions of the Y resulting in a fragment-like chromosome have been described in an intersex raised as a female (Lo and Kobernick, 1965), in a Turner's syndrome patient where it occurred with 45,X mosaicism (Ferguson-Smith et al, 1969), and in a severely retarded male baby (Nakagome et al, 1965). The case presented here is apparently the first in which an extreme deletion of the Y chromosome was found to be associated with fertility as well as normal male development. Case Report Chromosome studies were done on a 36-year-old mentally-retarded male (IQ 51), with several minor physical anomalies. He is 179 cm tall, with a normal male habitus, including heavy beard and normal external genitalia. During childhood, he had surgery for bilateral inguinal hernia and undescended testicles, but his testicles are now of normal adult size. He usually speaks with a peculiar high-pitched voice, but is capable of using deep voice tones on occasion. His chest shows pseudo-gynaecomastia, no true breast tissue being present. The shape of the head is remarkably round, with a bilateral frontal-temporal depression and a low anterior hairline. The eyes appear deeply set, and he wears glasses for severe myopia. Brushfield spots are noted in the iris periphery. There is anteversion of both auricles, and the chin is prominent. Acne extends from his shoulders to the upper portions of his chest and back. In addition, he has numerous small, bright-red cavernous haemangiomas on the neck, arms, and scalp. Examination of the extremities shows hypoplasia of the 5th meta-carpals, resulting in short-appearing 5th fingers. The big toes are short and slightly clubbed, and all of the finger and toenails are strikingly short in length. …