摘要:

Frydman M, Cohen HA, Karmon G, Savir H. Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature. Clin Genet 1992:41:57–61.A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline bead circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03632.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Seniz FN. The thymic findings in stillborns with neural tube defects. Clin Genet 1992: 41: 62–64.Neural tube defects are among the most common congenital anomalies causing perinatal deaths. Other organ system anomalies may be associated with neural tube defects: for instance, various types of thymus pathology have been reported in these patients. In this study thymic changes were investigated in 30 stillborns with neural tube defects seen between January 1988 and June 1989. Thymic weights were significantly reduced in 14 cases and increased in 7. One patient had a double thymus, and in two cases no thymus tissue could be found. These findings suggest a primary developmental defect of the neural crest, affecting the orderly development of the thymus glan

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03633.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Lund AM, Eiberg H, Rosenberg T, Warburg M. Autosomal dominant cataract; linkage relations; clinical and genetic heterogeneity. Clin Genet 1992:41:65–69.Congenital cataract is a heterogeneous disorder. Approximately one third of the cases are hereditary. A large family with autosomal dominant congenital cataract is described here. Clinical examinations showed variable expressivity, but all affected persons were eventually operated, most of them in the first or second decade of life. Linkage relations with a number of polymorphic marker systems were studied, all of them being negative. Among the 21 systems studied were Fy, HP, DI6S4 and CRYG. The present autosomal dominant congenital cataract is termed the Volkman cataract, after the ancestor in the pedigree, and is genotypically different from the Marner cataract found in another large Danish pedigre

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03634.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M. Familial amyloid polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet 1992:41: 70–73.Familial amyloidotic polyneuropathy (FAP) is a dominantly inherited form of amyloidosis usually associated with an abnormal transthyretin (TTR), previously known as prealbumin. Several disease‐related variants of the protein, each with a different amino acid substitution and correlating DNA point mutation, have been identified. The TTR gene from a patient suffering from this disorder was asymmetrically amplified and directly sequenced, revealing a cytosine for thymine substitution in the second base of codon 30 and the creation of a novel Cfo I restriction endo‐nuclease site in exon 2. This mutation results in a previously undescribed substitution of an alanine for valine in the final TTR protein. Analysis of the amino acid mutation reveals it to be a hydrophilic substitution at a hydrophobic core position. Alanine at position 30 represents the second FAP‐associated mutation at position 30

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03635.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Hing AV, Torack R, Dowton SB. A lethal syndrome resembling branchio‐oculo‐facial syndrome. Clin Genet 1992:41: 74–78.Branchio‐oculo‐facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocuiar anomalies, and unusual facial appearance. A patient with branchial cleft fistulae, microphthalmia, nasomaxillary dysplasia, in addition to cardiac and CNS malformation {holoprosencephaly and meningo‐encephalocele), is described. Although many features of this lethal malformation complex resemble those seen in the branchio‐oculo‐facial syndrome, the complex may represent a new multiple malfor

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03636.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Wellesley D, Goldblatt J. A new form of X‐linked, high‐frequency, sensorineural deafness. Clin Genet 1992:41:79–81.A kindred is described in which five male members over three generations manifested a high‐frequency deafness. Their isolated sensorineural hearing loss was non‐progressive and only in the 1500–8000 Hz range. The pattern of inheritance and nature of the auditory deficit would suggest it is a previously undescribed X‐linked for

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03637.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Verma RS, Conte RA, Sayegh SE, Kanjilal D. The interstitial deletion of bands q33–35 of long arm of chromosome 7: a review with a new case report. Clin Genet 1992:41: 82–86.Interstitial or terminal deletion resulting in partial monosomy of various segments of the long arm of chromosome 7 was first recorded over two decades ago. Since then, a number of reports have correlated the severity of clinical manifestations with the length of the deletion involved. However, difficulty remains in defining a so‐called “distinct syndrome”. We present a new case with the shortest interstitial deletion of the long arm of chromosome 7 bands q33–35, i.e. 46,XX,del(7)(pter →q33::q35 → qter). A 4‐year‐old black female was referred for cytogenetic evaluation due to neurodevelopmental delay. Pertinent physical examination at birth was cleft lip and cleft palate which required corrective surgery. At 2 years of age, a myringotomy tube was inserted for repeated ear infection and a hearing aid was required for conductive deafness. Neurological examination revealed poor eye contact, and severe mental and motor retardation. We reviewed 21 cases of a partial interstitial deletion of varied segments of the long arm of chromosome 7, but we were unable to establish a definite relationship with the deletion of various 7q segments with any specific clin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03638.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Lerone M, Pessagno A, Taccone A, Poggi G, Romeo G, Silengo MC. Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. Clin Genet 1992: 41: 87–89.A syndrome of ocular and cutaneous hypopigmentation, severe mental retardation with spastic tetraplegia and athetosis was first observed by Cross in three siblings of an inbred Amish family. Since then, seven other patients, three, sporadic and four with familial recurrence, have been reported in the literature, confirming the autosomal recessive inheritance. The clinical spectrum of the syndrome has been expanded to include true developmental defects of the CNS such as cystic malformation of the posterior fossa of the Dandy‐Walker type. We report a new case of Cross syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03639.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Berge KE, Berg K. No effect of a Taql polymorphism in DNA at the endothelin I (EDN1) locus on normal blood pressure level or variability. Clin Genet 1992: 41: 90–95.Endothelin is a peptide reported to be one of the most potent vasoconstrictors known. Presumably, endothelin could play a role in the physiological regulation of blood pressure in healthy or hypertensive people. We have studied a normal restriction fragment length polymorphism (RFLP) at the endothelin‐I (EDN1) locus detected with the restriction enzyme Taql. In three different series comprising 166, 120 and 207 unrelated individuals, we found no evidence for association between genotype in this polymorphism and level of systolic or diastolic blood pressure. In two series of 156 and 117 monozygotic (MZ) twin pairs, respectively, there was no difference between genotypes in within‐pair variation in systolic or diastolic blood pressure. Thus neither “level gene” nor “variability gene” effects of normal genes at the EDN1 locus could be detected with the polymorphism analyzed, in healthy popul

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03640.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Maaswinkel‐Mooij PD, van Zwieten P, Mollervanger P, van Noort E, Beverstock G. A girl with 71,XXXXY karyotype. Clin Genet 1992: 41: 96–99.A girl with a 71,XXXXY karyotype is described. Internal and external genitalia were female despite the presence of a Y‐chrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03641.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY