摘要:

AbstractFive male fetuses with trisomy 9 are discussed. Three were detected prenatally and terminated, 1 aborted spontaneously, and the fifth delivered prematurely and died soon after. Multiple congenital abnormalities characteristic of trisomy 9 were detected in all 5 cases and are compared to those of previous reports. © Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560302

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

年代:1995

数据来源: WILEY

摘要:

AbstractTrisomy 9 is a relatively uncommon chromosome abnormality that may sometimes be seen in the nonmosaic state. We reviewed 23 mosaic and 15 nonmosaic cases of trisomy 9, including 2 new cases, in order to better define the prognosis and phenotype of this disorder. A recognizable trisomy 9 phenotype was identified and included a “bulbous” nose, microphthalmia, and dislocated limbs. Other nonspecific anomalies involving various organ systems were also common. With one exception, all survivors had severe mental impairment. Mosaicism for trisomy 9 predicted longer survival, but the degree of mosaicism in lymphocytes or fibroblasts did not predict survival or degree of impairment. Parental chromosome variations were not uncommon. In contrast to prior reports, no specific prognostic finding was identified. A meiotic origin with loss of a trisomic cell line in mosaic cases is suggested. © Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560303

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on a 6‐year‐old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27‐year‐old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low‐set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high‐arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv(9qh+) chromosome. The mother's karyotype was 46,XX,inv(9qh+), while the father's was 46,XY.At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient's birth. Severe psychomotor retardation was also noted.Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reproted since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. © Wil

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560304

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe describe a fetus with abnormalities suggestive, but not typical, of severve Smith‐Lemli‐Opitz syndrome (SLO). Biochemical studies demonstrated that there was a defect of cholesterol biosynthesis similar to that recently discovered in children with SLO. The findings in this fetus extend even further the wide spectrum of abnormalities of the SLO phenotype, andemphasize that a genetic pathological examination and biochemical studies should always be undertaken on atypical cases, especially fetuses. © Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560305

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

年代:1995

数据来源: WILEY

摘要:

AbstractAn abnormality in cholesterol synthesis was described recently in the Smith‐Lemli‐Opitz (SLO) syndrome. Here we describe how the application of this finding has enabled an accurate prenatal diagnosis. We also discuss the possible use of this test in detecting heterozygotes. © Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560306

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

年代:1995

数据来源: WILEY

摘要:

AbstractUntil recently, the diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS), an autosomal recessive malformation/mental retardation syndrome, was made on the basis of clinical criteria alone. As a result, prenatal diagnosis has been possible only if sonography disclosed distinct fetal malformations in a subsequent pregnancy. However, the recent description of increased levels of 7‐dehydrocholesterol (cholesta‐5,7‐dien‐3β‐ol) in patients with SLOS, most likely caused by a deficiency of 3β‐hydroxysteroid‐δ7‐reductase, has provided an apparently reliable biochemical marker for diagnosis of SLOS. To determine if this abnormality of sterol metabolism has utility for prenatal diagnosis of SLOS, we measured the levels of neutral sterols in stored amniotic fluid samples from two SLOS pregnancies. In both cases, the diagnosis of SLOS was made in the neonatal period by clinical criteria and the finding of markedly increased levels of 7‐dehydrocholesterol in plasma. Quantitative analysis by gas chromatography of sterols extracted from the amniotic fluid of both pregnancies revealed similar, markedly increased levels of 7‐dehydrocholesterol and its precursor, lathosterol (cholest‐7‐en‐3β‐ol), both of which were undetectable in reference amniotic fluids. These findings suggest that abnormalities of cholesterol biosynthesis in SLOS may be sufficiently expressed in fetal life to permit prenatal diagnosis of this disorder by measurement of 7‐dehydrocholesterol

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560307

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco‐Sjögren syndrome, it is concluded that this girl had severe Smith‐Lemli‐Opitz Syndrome (SLOS) with exceptionally long survival. This diagnosis was confirmed through assay of 7‐dehydrocholesterol in cultured fibroblasts. © Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560308

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

年代:1995

数据来源: WILEY

摘要:

AbstractThe Smith‐Lemli‐Opitz (SLO or RSH) syndrome is an autosomal recessive disorder characterized by a recognizable pattern of minor facial anomalies, congenital anomalies of many organs, failure to thrive, and mental retardation. Its cause is a defect in cholesterol biosynthesis characterized by abnormally low plasma cholestrol levels and concentrations of the cholestrol precursor 7‐dehydrocholesterol (7DHC) elevated up to several thousand‐fold above normal. We used capillary column gas‐chromatography to quantify sterols in amniotic fluid, amniotic cells, plasma, placenta, and breast milk from a heterozygous mother who had previously given birth to an affected son and in cord blood and plasma from her affected newborn daughter. The cholesterol concentration in amniotic fluid at 16 weeks gestation was normal, but 7DHC was 11% of total cholesterol, similar to cultured fibroblasts from patients with SLO syndrome. At 38 weeks, a girl with phenotype consistent with the syndrome was born. Cholesterol concentrations were abnormally low in cord blood and in the baby's plasma at 12 weeks, while levels of 7DHC were grossly elevated, confirming the prenatal diagnosis. The mother's plasma cholesterol increased steadily during gestation but remained below the lower 95% limit reported for normal control women. We conclude that it is now possible to detect the SLO syndrome at 16 weeks gestation by analyzing amniotic fluid sterols. © Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560309

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

年代:1995

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560310

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

年代:1995

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560311

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

年代:1995

数据来源: WILEY