摘要:

AbstractWe describe a term infant with facioauriculo‐vertebral “dysplasia” (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY, +22 (72%/28%); skin fibroblasts, 47, XY, +22 (100%). This is the second report of Goldenhar anomaly with epibulbar dermoids in a live‐born infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590402

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

年代:1995

数据来源: WILEY

摘要:

AbstractThis is a report of a patient with delayed puberty and a previously unreported translocation 46,X,−X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich‐Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. © 1995 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590403

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

年代:1995

数据来源: WILEY

摘要:

AbstractThis study was conducted to determine whether newborns from different ethnic and socioeconomic groups in Washington State are equally likely to have a routine second newborn screening (NBS) test and if there are identifiable factors associated with not having a second test. For many years, the standard of care for NBS in Washington has been that newborns should receive a routine second screening test at age 7–10 days. However, data collected by State Department of Health (DOH) staff for the past several years indicate that only about 80% of newborns receive a routine second NBS test. The data presented here suggest that identifiable factors (i.e., barriers) exist in accessing a routine second NBS test in Washington. Increased educational efforts targeting certain high‐risk infants, their parents/caretakers, and primary care providers are apparently needed to ensure equal access to a routine second test. © 1995 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590404

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on 2 sibs with severe microcephaly and unusual associated manifestations. The brother has borderlinehormal intelligence, episodic seizures, clumsiness, and the more severe of facial manifestations; the sister has normal IQ and neither seizures nor behavior abnormalities. Small ears, markedly protruding midface, curved nose, and severe retrognathia are present in both sibs. We postulate that our patients have a “new” form of AR microcephaly, since normal intelligence is not found, nor are the associated findings as pronounced, as in other, more common forms of AR microcephaly (i.e., “microcephalia vera”). © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590405

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

年代:1995

数据来源: WILEY

摘要:

AbstractFragile X syndrome, which affects 1 in 1,250 males, is the most common inherited condition causing mental retardation. Although carrier detection for the fragile X syndrome utilizing DNA has now been simplified, genetic counseling and the process of informing at‐risk family members remains complex. The purpose of this paper is to offer practical guidelins to health professionals providing genetic counseling to fragile X families in order to facilitate the dissemination of genetic risk information to relatives. This paper was developed from a workshop held at the 4th International Fragile X Conference. The guidelines presented here represent a beginning in the development of an approach to informing relatives in fragile X familes about genetic risk, and the identification of mechanisms to reduce the burden to families. © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590406

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on 2 sibs with desquamative interstitial pneumonia. The female died at age 1 7/12 years despite use of prednisolone and methylprednisolone, while the male, now age 3 years, is alive with oxygen support. The occurrence of desquamative interstitial pneumonia in sibs born to normal parents suggests that in some cases the disease is an autosomal‐recessive trait. © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590407

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe describe an infant with mos45,X/46,XY/47,XYY/48,XYYY who presented with ambiguous genitalia. Her phenotype was also remarkable for minor ear and eye anomalies and coarctation of the aorta with bicuspid aortic valve. Laparoscopy revealed bilateral Fallopian tubes and a left infantile testis with epididymis. Chromosomal analyses of blood, skin, aorta, right Fallopian tube, and left gonadal tissue showed mos45,X/46,XY/47,XYY/48,XYYY. The 46,XY cell line was identified with routine trypsin‐Giemsa banding only in cultured cells from an aortic biopsy. Fluorescence in‐situ hybridization (FISH) was utilized to identify the presence of 46,XY cells in other tissues. The clinical manifestations of this patient are discussed and compared with those of similar cases of Y chromosome aneuploidy. To our knowledge, this is the first report of a patient with this unusual karyotype. © 1995 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590408

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on a 3‐month‐old girl with Miller‐Dieker syndrome resulting from a maternal full‐cryptic translocation t(10;17)(q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller‐Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, prenatal diagnosis using FISH is feasible. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590409

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

年代:1995

数据来源: WILEY

摘要:

AbstractFive patients presenting with non‐ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to normalize plasma glycine levels. This therapy resulted in seizure reduction and a marked increase in wakefulness. Plasma carnitine deficiency was noted in three of four patients tested, and benzoylcarnitine was identified in plasma, urine, and CSF. Treatment with L‐carnitine normalized plasma free carnitine. L‐carnitine showed a tendency to increase the glycine conjugation of benzoate. An episode of coma and increased seizures in one patient was associated with a toxic level of benzoate, probably due to insufficient mobilization of glycine for conjugation. High dose benzoate therapy improved the quality of life of surviving patients. Close monitoring of glycine, benzoate and carnitine levels is advised. © 1995 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590410

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

年代:1995

数据来源: WILEY

摘要:

AbstractThe infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. © 1995 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590411

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

年代:1995

数据来源: WILEY