摘要:

AbstractWe report a further case of trisomy 4p: a 5‐year‐old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity.In a review of 27 cases (11♂, 16♀, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently “total” trisomy of the short arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the “pure” trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010202

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractBlood, urine, and saliva samples were obtained from 100 members (42 males and 58 females) of a large family with an increased incidence of cardiac illness to study the mode of genetic transmission of hyperlipidemia, and the linkage relations of this trait with polymorphic markers. Total cholesterol, triglycerides, and lipoprotein Svedberg fractions were determined, the atherogenic index was computed, and 30 markers, including 27 polymorphic ones, were determined.The fit of one distribution and mixtures of two and three distributions, on both the original and the logarithmic scale, were examined for each quantitative trait. Triglyceride levels showed a significantly better fit to a mixture of two lognormal distributions than to a single lognormal distribution. Triglycerides showed the highest proportion of variance accountable by genetic transmission (74.9%), followed by cholesterol (52.1%); these two traits were chosen for major gene pedigree analyses. Hypertriglyceridemia gave a good fit to an autosomal dominant mode of transmission, the minimum probability of miclassification being 9.3%. From a bivariate analysis of these two variables the linear function that best separates the two groups was derived and the minimum percentage of misclassification for this function was found to be 6.8%.Linkage analysis between the possible major locus for elevated triglycerides and the 27 polymorphic markers indicated no significant lod scores; but a positive lod score of 0.73 was obtained with pepsinogen, at equal male and female recombination fractions of 0.1. More data are needed to confirm or deny this possible linkage.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010203

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractThis paper describes the anatomical variations observed in the head and neck in eight infants with the 18‐trisomy syndrome that were dissected and studied in detail. Of the usual muscles of facial expression, occipitofrontalis and the auricular and nasal muscles were hypoplastic in all eight bodies and each subject showed extensive fusion of the muscles around the corner of the mouth. In each body there was a supernumerary muscle band that extended from the region near the corner of the mouth to the occipital attachment of trapezius. The otomandibular region in each body showed a variable spectrum of muscular, skeletal, arterial, and salivary gland variations bilaterally. Three of the bodies had infrahyoid muscle variations. The sum of these observations provides a more complete delineation of the variations that occur in the 18‐trisomy syndrome.Tentative pathogenetic hypotheses for several of the defects are discussed, based on observations from human descriptive embryology. Poswillo's teratological model [1973] implicating hemorrhaging as a causal mechanism in human first and second branchial arch malformations is suggested as a possible mechanism to explain the bilateral otomandibular defe

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010204

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractA 14‐year‐old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. β‐Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine‐6‐sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a β‐galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010205

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010206

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractMidtrimester (14–22 weeks of gestation) amniotic fluid hormone levels were measured as indicators of fetal sex in 99 pregnancies (66 with a male fetus and 33 with a female fetus). Statistically significant didfferences in testosterone (T), androstenedione (A), and follicle stimulating hormone (FSH) levels were observed between pregnancies with fetuses of differing sex. No significant difference was observed for estrone (E1), estradiol (E2), or progesterone (P) levels.Fetal sex was accurately predicted in 96 of 99 pregnancies using a criterion of T ≥ 100 pg/ml for males and in 94 of 99 pregnancies using a criterion of FSH ≥ 3 mIU/ml for females. In the 3 cases in which the fetus was male but the T level was<100 pg/ml, the FSH was clearly in the male range. Likewise, in 5 cases in which the fetal sex was not correctly predicted by the FSH level, the T level confirmed the karyotype.It is proposed that measurement of amniotic fluid testosterone levels would be of value in detecting errors in prenatal cytogenetic diagnosis when there is incorrect fetal sexing. It is suggested that FSH determinations be performed when the amniotic fluid testosterone does not confirm the karyotype, and that when there is a discrepancy between the karyotype and both of these measurements, repeat amniocentesis should be consi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010207

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractCytogenetic analysis after conventional staining and Q‐banding demonstrated a pericentric inversion of chromosome 14 in the mother of a child with a mental retardation/multiple congenital abnormality syndrome and an abnormal chromosome 14. The proposita's partial duplication for the distal segment of 14q is apparently the result of crossing over within the inverted segment during meiosis. An attempt is made at assessing the risk that a carrier of the described pericentric inversion faces of having an abnormal child. The estimate of the risk depends on two factors: 1) the probability of a crossover occurring within the inverted segment during meiosis, and 2) the probability of a child with either of the two possible unbalanced recombinant chromosomes being born alive. An explanation is offered as to why some pericentric inversions confer a significant risk while others are so benign and occur with such a high frequency that they can be considered normal chromosomal variants, rather than chromosome aberration

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010208

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractLiver homotransplantation was attempted as replacement therapy in a 2‐year‐old patient with near total absence of sphingomyelinase activity typical of Niemann‐Pick disease type A. Satisfactory function of the graft was observed until the death of the recipient from respiratory complication 2 years after transplantation. The clinical stigmata of the disease became less severe during the first 6 months after transplantation, with no further improvement thereafter. Sphingomyelinase activity was restored to near normal levels in serum, was present in cerebrospinal fluid and was maintained in the graft at normal or supranormal levels. No accumulation of sphingomyelin was observed in the transplanted organ as evaluated by histopathological and chromatographic studies. These findings support the interest of organ transplantation for long‐term enzyme replacement in Niemann‐Pick disease type A and similar lysosomal def

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010209

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractWithin the past 24 months, we have performed prenatal diagnostic studies in 4 pregnancies known to be at risk for well‐described genetic syndromes involving renal abnormalities, ie, Meckel syndrome, Roberts syndrome, and bilateral renal agenesis. The diagnostic techniques utilized were ultrasonographic scanning (B‐mode and grey scale), biochemical assays, and radiographic evaluation. The ultrasound finding common to the 3 affected cases was extreme oligohydramnios, which we considered indirect evisdence that renal anomalies were present. The ultrasound scans of the fetuses affected with Meckel and Roberts syndromes demonstrated anechoic cystic spaces in the abdomen, representing the enlarged dysplastic cystic kidneys. An encephalocele was well documented by B‐mode scan in the fetus with Meckel syndrome. The absence of normal limbs in the Roberts syndrome was evident on serial grey scale scans of the fetus. Biochemical and radiographic studies provided results consistent with the suspected diagnoses. The importance of providing genetic counseling and prenatal diagnosis to families at risk is empha

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010210

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010211

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY