摘要:

In a 1‐year follow‐up study, the effects of amniocentesis for genetic diagnosis upon 22 infants and their mothers were assessed. The infants were tested at 1 year of age on the Bayley Infant Scale of Mental and Motor Development. No deviations from normal mental or motor development were found. The mothers were interviewed at the same time, in order to better understand the emotional aspects of the experience. Women between ages 35‐39 with no previously affected child tended to accept amniocentesis easily, as an appropriate part of prenatal care. Mothers with a previous defective child tended to have more painful emotional reactions, including higher anxiety over the test and more conflict about a possible abortion. They needed more intensive and extended counseling. We suggest that the issue of abortion is important, even if manageable by most women, and that a chance to discuss it may be signif

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb04397.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Six individuals in two closely related families in Southern Africa had osteogenesis imperfecta (OI). Although OI is usually inherited as an autosomal dominant, the pattern of transmission in this kindred was consistent with autosomal recessive inheritance.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb04398.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A reciprocal translocation, t(2;5) (p23;q31) was found in healthy individuals through two generations of a family. The balanced aberration resulted in a derivate chromosome 2 in two malformed offspring in the third generation. The family was ascertained through the two unbalanced carriers whose phenotypic abnormalities resembled those of two other offspring who died prior to the cytogenetic examination.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb04399.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Feeblemindedness, dementia, mental disorders, and epilepsy, as well as optic atrophy, tapeto‐retinal degenerations, cataract, ophthalmoplegias, and neural hearing loss were found more frequently in patients suffering from hereditary ataxias (HA) and allied disorders than in the general population.Mental disorders and squints, and in certain instances also ocular myopathy, feeblemindedness, and cataract were found also in non‐HA family members. These traits were particularly frequent in subjects with minor neurological signs previously defined as having an “unspecific neuropathy” (Un), and belonging to kindreds in which autosomal dominant HA segregated. Un clustering in such families is probably caused by other genetic (or other) mechanisms different from that governing the classical HA in the family. These presumably polygenic conditions are thought to be introduced into the HA kindreds by a negative selection.Optic atrophy, tapeto‐retinal degenerations, surdity, epilepsy, and possibly also dementia, were found together with monomeric disease, as well as in the Un subjects, particularly in families with recessive HA. Such traits were equally rare in unaffected family members and controls. Un in such families as well as the traits mentioned may reflect manifestation of HA genes in heterozygotes. They could also reflect the presence of genes linked to the

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb04400.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Otodental dysplasia is an ectodermal dysplasia characterized by abnormal crown morphology of the teeth and sensorineural hearing loss. It was documented in six generations of a kindred of Italian extraction. Thirty‐three of the 119 examined family members were affected. Twenty‐six persons had characteristic dental anomalies combined with a hearing loss. Two had the dental anomalies alone, four had a hearing loss only and one of those with dental anomalies could not be tested for hearing.The teeth of the 29 with dental anomalies had large, bulbous crowns. The normal relationship between cusps and grooves was obliterated. Molars, both deciduous and permanent, were involved. Deciduous canines were large and bulbous. Absence of pre‐molars was documented in 14 of the 29 individuals with abnormal teeth. Those premolars which were present were frequently small. Radiographs of the teeth showed denticles and taurodontia.Twenty‐six of the 30 individuals with a hearing loss had concomitant dental anomalies. Of the four with isolated hearing loss, one was proven to have the syndrome. The remaining three were conjectured to he affected. The age of onset of the hearing deficit ranged from early childhood to middle age.The results of a chi‐square test supported autosomal dominant inheritance. The pleiotropy in this syndrome is postulated to be due to a genetic defect in the neur

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb04401.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Preparations of quinacrine stained interphase nuclei from buccal smears and hair root sheaths were mounted in Macllvaine's buffer at various pH's in an attempt to obtain optimum differentiation of X‐ and Y‐chromatin. Relatively high pH (5–8) was associated with intense nuclear fluorescence. Background nuclear fluorescence decreased with lower pH's (2–4), revealing distinct granules. X‐chromatin is best differentiated against this decreased background, while positive identification of Y‐chromatin is more certain in the absence of confusing granules. Hence optimum pH for X‐chromatin screening in quinacrine stained preparations is approximately 3.0, that for Y‐chromati

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb04402.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

The karyotype 46,XX/69,XXY was found in a 13‐year‐old, mentally subnormal patient with club feet, strabismus, eunuchoid habitus, small penis, midscrotal urethrovaginal opening, small descended left testis, and small undescended right testis; no ovarian tissue could be found at laparotomy. Triploid:diploid cell ratios were 60:40 and 4:96 in skin fibroblasts and circulating lymphocytes, respectively. In the triploid line, two of the no. 13 chromosomes had unusually large satellites and one of the no. 22 chromosomes had a brightly fluorescent zone on its short arms. The patient's father was heterozygous for both these autosomal markers; the mother carried neither marker. This, together with the single Y, indicated that the extra haploid set was derived from the father. Of several possible mechanisms, we favor the suggestion that double fertilization occurred; one sperm nucleus immediately fused with the egg nucleus producing the diploid line; the second sperm nucleus was incorporated later into one of the two cells resulting from the first division of the zygote, producing the triploid l

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb04403.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY