Autosomal Monosomy in Man

Monosomy for a G autosome.

“…However, Al-Aish et al (1967) have now described a case of complete autosomal monosomy G in a mentally retarded 42-year-old girl.…”

“…R. C. Hindle (personal communication, 1967) has followed an infant of similar phenotype with a deleted acrocentric of the G group. German and Bearn (1962) and Al-Aish et al (1967) have described older children with anomalies of the G group. The karyotype of German and Beam's case showed that a member of the pair believed to be No.…”

“…21 was very small, and was probably a ring chromosome (Penrose and Smith, 1966). The child described by Al-Aish et al (1967) was monosomic for a small acrocentric autosome. This paper describes a male infant in whom physical and cytogenetic findings are simxilar to the first four cases.…”

A child with a ring G chromosome (46,XX, Gr).

“…The occurrence of monosomy or deletion of a group G chromosome has been reported in several patients with mental retardation and multiple abnormalities (Polani, 1969 (German and Bearn, 1962;Thorburn and Johnson, 1966;Hall, Frega, and Svenningsen, 1967;Hindle, 1967;Al-Aish et al, 1967;Endo et al, 1969;Challacombe and Taylor, 1969) suggests that they constitute a definite syndrome. The major features are physical and mental retardation, hypertonia, failure to thrive, and an abnormal facies.…”

Refractory Anemia with Leukemic Transformation and Chromosomal Change

“…In Di Guglielmo syndrom [13], and more recently in polycythaemia vera [15], a clonal evolution resulting in complicated chromosomal changes in the leukemic end-stage has been reported. Inborn mono somy G and mosaicism with a monosomy G have been described in a few cases of congenital malformations [1,14]; acquired monosomy G was reported in acute myeloblastic leukemia [18] and in the terminal stage of Di Guglielmo syndrome [4],…”