Anti-Mongolism Studies in an Infant With a Partial Monosomy of the 21 Chromosome

Monosomy 21: A possible stepwise evolution of the karyotype

“…Our patient presents with a phenotype closely resembling that of complete monosomy 21 (Table HI). Other clinical features, not mentioned in Table I11 but present in our case and other patients, include congenital heart disease [Lejeune et al, 1964;Broyer et al, 1966;Engel et al, 1966;Reisman et al, 1966;Greenwood et al, 1971;Halloran et al, 1974;Fryns et al, 19771, dystrophic fingernails [Reisman et al, 1966;Fryns et al, 19771 and transient thrombocytopenia [Greenwood et al, 1971;Fryns et al, 19771. In addition, the finding of absent or hypoplastic distal phalanges appears to be unique in our case and may be another malformation that should perhaps be added to the clinical syndrome. Despite the clinical appearance of the "complete monosomy 21 syndrome," the infant reported here is mosaic for monosomy 21 in peripheral blood and bone marrow and for a 21q deletion in skin fibroblasts.…”

A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities.

“…3 (Patau, Opitz, and Dewey, 1964); part of the long arm of a group D chromosome (Lele, Penrose, and Stallard, 1963; Thompson and Lyons, 1965); a mosaic showing partial monosomy for the long arm segment of a G group chromosome in one stem line with complete monosomy in the other was described by Lejeune, Berger, Rethore, Archambault, Jerome, Thieffry, Aicardi, Broyer, Lafourcade, Cruveiller, and Turpin (1964). Recently two further cases of this 'anti-mongolism' condition have been reported by Reisman, Kasahara, Chung, Darnell, and Hall (1966), and Engel, Hastings, Merrill, McFarland, and Nance (1966). We would like to report a new deletion involving the terminal segment of the long arm of chromosome No.…”

"Antimongolism" syndrome.

“…1), inguinal hernia, hypospadias, scrotal dysplasia, and clubfoot were observed. These are common stigmata which have been noted in other reported cases of the syndrome (Lejeune et al, 1964;Cohen, 1966;Penrose, 1966;Reisman et al, 1966;Thorburn and Johnson, 1966 Medical Memoranda JLd 149 Al-Aish et a., 1967;Hall Cl al., 1967). He also has cleft palate and harelip, which have not been associated with any other similar cases, and microphtalm;a.…”