Autosomal trisomy of a group 16–18 chromosome

German, James; Rankin, J. K.; Harrison, Phyllis A.; Donovan, Denis J.; Hogan, William J.; Bearn, Alexander G.

doi:10.1016/s0022-3476(62)80111-5

Cited by 65 publications

(5 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In 2 (Cases 2 and 13) the medial third of both clavicles was absent and the lateral portions were extremely thin. Unusually thin clavicles have been noted previously (German, Rankin, Harrison, Donovan, Hogan, and Bearn, 1962). One or both nipples were displaced well outside the mid-clavicular line in half of our cases, and showed varying degrees of hypoplasia.…”

Section: Analysis Of Anomalies In 13 Cases (I) Anomalies Evident On Csupporting

confidence: 69%

See 1 more Smart Citation

E (16-18) trisomy syndrome: analysis of 13 cases.

Butler¹,

Snodgrass²,

Sinclair³

et al. 1965

Archives of Disease in Childhood

View full text Add to dashboard Cite

Section: Analysis Of Anomalies In 13 Cases (I) Anomalies Evident On Csupporting

confidence: 69%

“…Good examples of this type are seen in the series of Smith et al (1962, Fig . 3) and the paper of German et al (1962, Fig. 1).…”

Section: Commentmentioning

confidence: 99%

E (16-18) trisomy syndrome: analysis of 13 cases.

Butler¹,

Snodgrass²,

Sinclair³

et al. 1965

Archives of Disease in Childhood

View full text Add to dashboard Cite

“…Little is known about the aetiology of the SUA syndrome. A chromosomal aetiology has been suggested on the basis of (1) the high fetal wastage (Javert, 1957;Bourne and Benirschke, 1960;Thomas, 1963); (2) the wide variety of severe congenital malformations; and (3) the reported association of SUA with trisomy (especially trisomy-18 and -13, but also mongolism) and with gonadal dysgenesis (Richart and Benirschke, 1958;German et al, 1962;Uchida, Bowman, and Wang, 1962;Lewis, 1962;Feingold et al, 1964;Gustavson, 1964;Gustavson et al, 1964;Seki and Strauss, 1964;VanLeeuwen et al, 1967;Dellenbach et al, 1968). As a result of our series of patients where chromosomes and dermatoglyphs were studied, we are led to conclude that SUA is no more than a fortuitous organ manifestation of trisomy.…”

Section: Resultsmentioning

confidence: 99%

Significance of the Single Umbilical Artery: A Clinical, Radiological, Chromosomal, and Dermatoglyphic Study

Vlietinck¹,

Thiery²,

Orye³

et al. 1972

Archives of Disease in Childhood

View full text Add to dashboard Cite

P. (1972). Archives of Disease in Childhood, 47, 639. Significance of the single umbilical artery: a clinical, radiological, chromosomal, and dermatoglyphic study. A single umbilical artery is present in about 1% of all singletons. It is associated with a wide range of congenital malformations. Chromosomal analysis of our surviving cases gave normal results. Dermatoglyphic patterns were normal, except that the boys showed a three-to fourfold increase in the number of the radial loops on the fingers, and a lowering of the total finger ridge count. Evidence favouring a common non-genetic cause for both a single umbilical artery and the associated malformations is discussed.Although the absence of one umbilical artery was first reported a century ago (Hyrtl, 1870), the significance of a single umbilical artery (SUA) has only been realized since a retrospective study by Benirschke and Brown (1955) showed it was associated with increased incidence of congenital anomalies. Because most of the investigations on SUA have been made by pathologists, the conclusions drawn may not be applicable to the live infant population. And because most of these studies are retrospective, they may also be biased with respect to the incidence of congenital malformations.The present report concerns a prospective study carried out in a consecutive series of 2572 singletons born in the same hospital and followed up over a period of several years by means of a planned investigative programme including intravenous pyelography (IVP), chromosome patterns, and dermatoglyphs. MethodsIn this investigation the umbilical cord was studied in various ways: gross examination of the freshly delivered umbilical cord and placenta; re-examination after fixation for one week in 10% formaldehyde, followed by the study of H. and E.-stained paraffin sections prepared from the middle portion of the cord.All children with SUA who succumbed during the perinatal period were necropsied. Follow-up study of the survivors included clinical examination, IVP, and Received 13 December 1971. investigation of the karyotype and dermatoglyphs.The mean age at the last examination was 21 months (range, 5 months to 31 years). ResultsIncidence and mortality. In 29 of the 2572 consecutive cords examined (1-1 %), one umbilical artery was lacking. The significance of SUA, and its association with such factors as birthweight, maternal pathology, and placental pathology have been discussed elsewhere (de Clercq et al., 1970).Of the 29 children with SUA, 4 were stillborn and 2 died neonatally, giving a perinatal mortality rate of 21%. Half of the stillborn fetuses (2/29: 7%) showed congenital malformations (Table I).Of the 23 children with SUA still living, 22 were given a complete clinical and neurological examination. In one case examination was refused by the parents; this child had been found to be grossly normal at birth and showed no malformations at

show abstract

“…Forty-one cells were examined and the results are shown in Table I (Simmons, Baikie, and Garson, 1965). Huehns et al (1964a) formed ears, micrognathia, the surrender position of the hands, clinical evidence of congenital heart disease, limitation of abduction of the hips, and abnormalities of the feet including prominent heels and short flexed great toes (Edwards et al, 1960;German et al, 1962;Uchida, Bowman, and Wang, 1962a;Hecht et al, 1963). In addition, it was noted that the child had unilateral microphthalmia.…”

mentioning

confidence: 99%