The 18p-syndrome and IgA deficiency

Culturas de sangue de uma paciente com retardo de crescimento e infecçäo recorrente mostram cariótipo 46,XX,18p-. As bandas excluiram a presença de translocaçäo ou inversäo pericêntrica e mostram que o cromossomo anormal tem uma deficiência simples. Os dados clínicos säo concordantes com a síndrome 18p- clássica, mas a doente apresenta também megaesófago, uma má formaçäo que näo tem sido descrita previamente. Os estudos imunológicos mostram uma ausência completa de IgA. A associaçäo de 18p- e anormalidade imunológica tem sido observada repetidamente e o significado da mesma é discutido neste trabalho

Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects. Madison blind study IV.

The chromosomes of 50 idiopathic mentally retarded patients with at least three other anomalies and 50 normal subjects were analyzed from randomized coded slides. The chromosomally abnormal cases were also studied by means of Q-banding. Seven of the patients showed a chromosome anomaly. Two had an extra G-like chromosome, which in case M99 consisted mainly of 16p (he had also a small Y chromosome shared by his father and brother), and in case M8 of 9p. The mother and sister of M99 were balanced translocation carriers. Case M18 (published separately) has approximately half of 12p deleted. Case M60 had a deletion of 20q and trisomy for a segment which most probably came from 7p. Case M49 had a deletion of 1p and increased centric heterochromatin in 1q: the latter abnormality was shared by the father and a sister. Case M83 displayed low-grade mosaicism for cells with an extra small ring of unknown origin. Case M38 had the brightly fluorescent distal part of the Y chromosome duplicated, and the father had the same chromosome. In the five first cases the phenotype was presumably caused by the chromosome anomaly, and in the mosaic this is a possible cause. In the normal subjects, two persons had minor chromosome anomalies: case M68 had a pericentric inversion in the Y chromosome, which was found also in the father and the brother, and case M10 had a telocentric no. 21. Three of the patients (M18, M49 and M99) can be regarded as type specimens for new syndromes in the sense that the chromosome anomalies causing the respective phenotypes have been identified for the first time.

Essential tremor, nystagmus and duodenal ulceration. A "new" dominantly inherited condition.

The familial occurrence of essential tremor combined with (congenital) nystagmus, duodenal ulceration and a narcolepsy-like sleep disturbance caused by an autosomal dominant gene with high penetrance and fairly uniform expressivity is reported in a family of Swedish-Finnish ancestry. Twelve of 17 affected family members had essential tremor which began between 30-40 years of age and which could be controlled temporarily by alcohol; this resulted in alcoholism in several affected individuals. The most severly affected persons showed cerebellar signs which may reflect a possible pathogenetic relationship of the syndrome to the genetic cerebellar atrophies. Nystagmus, observed in 12 of 17 affected family members (eight of whom were also affected with tremor) usually was congenital and accompanied by refractive errors. Duodenal ulcers occurred almost exclusively in individuals with the neurological syndrome, and preceded its onset in some cases. The ulcer disease therefore seems to be a component manifestation of the syndrome and is interpreted as a pleiotropic effect of the gene which also causes the nystagmus, tremor and sleep disturbance.

Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome.

A severely mentally retarded man displayed the following main symptoms: short stature, microcephaly, antimongoloid slant of palpebral fissures, big ears with hyperplastic helices, imperfect dental enamel, short and webbed neck, short arms, short hands, brachymetaphalangy, short second fingers, broad thumbs, short metatarsal bones, and unusually big first toes. It seems almost certain that the syndrome was caused by a chromosome deletion involving about half of 12p which was present in all of the lymphocytes examined.