Suggestive linkage to chromosome 19 in a large Cuban family with late‐onset Parkinson's disease

The identification of disease genes using family‐based approaches has provided important insights into the pathogenesis of Parkinson's disease (PD) demonstrating the importance of genetic studies on monogenic forms of the disease. We studied a large Cuban family with typical, late‐onset PD and probable autosomal dominant inheritance. Mean age at onset was 61.2 years (±12.53, 45–76). Other phenotypes such as essential tremor and atypical parkinsonism were observed in this family. We carried out a genome‐wide scan and linkage analyses. The genetic data were analyzed using a conservative model in which only patients with clinically definite or likely PD were considered affected, other phenotypes were regarded as “unknown.” Multipoint analyses yielded a maximum LOD of 2.26 between markers D19S221 and D19S840. Haplotype analysis showed a region on chromosome 19 shared by six of seven PD patients. The essential tremor phenotype and the atypical parkinsonism do not segregate with this haplotype, suggesting a different etiology. Our findings suggest the presence of a novel locus for PD on chromosome 19p13.3–q12. We propose that an oligogenic model with moderate contribution of two or three genes rather than a “pure” monogenic model might explain better the wide range in age at onset, the reduced penetrance and the phenotypical variability observed in PD families. © 2003 Movement Disorder Society     

Molecular cytogenetic characterization of Thinopyrum and wheat--Thinopyrum translocated chromosomes in a wheat--Thinopyrum amphiploid

The wheat--Thinopyrum amphiploid 'Agrotriticum # 3425' (AT 3425), which is highly resistant to Cephalosporium stripe, was identified to carry seven pairs of Thinopyrum chromosomes, three pairs of wheat--Thinopyrum translocated chromosomes and 18 pairs of wheat chromosomes. Fluorescence genomic in situ hybridization (FGISH), C-banding, sequential C-banding and FGISH, and denaturing polyacrylamide gel electrophoresis (SDS-PAGE) were used to characterize and identify the chromosomes. The Thinopyrum chromosomes in AT 3425 were designated as T1 through T7 based on their C-banding patterns. The FGISH and C-banding patterns of mitotic chromosomes in AT 3425 and meiotic chromosomes in the hybrid between AT 3425 and wheat cultivar 'Chinese Spring' (CS) revealed that wheat chromosomes 1D, 2B and 3D were involved in the three wheat-Thinopyrum chromosome translocations designated as (W-T)1, (W-T)2, and (W-T)3 respectively. The analysis of high-molecular-weight glutenin subunits in single seeds of AT 3425 confirmed the involvement of wheat chromosome 1D in the translocation (W-T)1. The designations 1DSuu.1DL-1TL, 2BSuu.2BL-2TL and 3DSuu.3DL-3TL were suggested for the wheat--Thinopyrum translocated chromosomes (W-T)1, (W-T)2 and (W-T)3 in AT 3425 respectively.     

Constitutional heteromorphism of 9q13→q21 in a patient with chronic myelogenous leukemia

An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformations are discussed.     

单发性双侧面横裂伴有家族遗传和染色体异常3例报告

报告3例单发性双侧面横裂伴有三代家族遗传史和相同的染色体异常核型,相同的对称性恒牙(胚)先天性缺如,并对面横裂的发病机制及病因学进行了讨论。这是一组极罕见的病例,在所涉猎的文献中,迄今尚未见相同报道,是否为一种新的综合征,目前尚不能定论,有待今后进一步探讨     

A case of Prader – Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)

We report on a case of Prader-Willi syndrome (PWS) with a true reciprocal unbalanced translocation, 45,XX,-15,der(11)t(11;15)pat. The proposita was diagnosed clinically as having severe PWS. Molecular studies revealed loss of the paternal methylation pattern at locus D15S63 and a deletion encompassing the loci from at least D15S10 to D15S97 of paternal chromosome 15. FISH studies confirmed the deletion of 15q11-q13 region and the presence of two telomeres on all chromosomes. The proposita's father, the father's sister and their mother are all carriers of the same balanced translocation t(11;15)(q25;q13). By genomic imprinting we would expect that if the father's sister were to give birth to a child with the same unbalanced translocation as the proband, it would be affected by Angelman syndrome.
To date, a similar familial unbalanced translocation due to loss of the small chromosome 15 derivative has not been described.     

IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome

We report a familial deletion of (8q) detected in amniocytes of a fetus with a normal ultrasound and in the phenotypically normal mother, who has now had three pregnancy losses. Chromosome analysis of amniocytes and maternal peripheral blood cells showed an interstitial deletion of (8)(q24.13q24.22), which is distal to the region associated with Langer-Giedion syndrome (LGS) or trichorhinophalangeal (TRP) syndrome. This deletion was confirmed by fluorescence in situ hybridization with a c-myc cosmid clone and chromosome 8 painting library.     

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype–phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients.