C Stoll,A Morali,B Leheup et al.
C Stoll et al.
The patient was the first child of first cousin parents. He was born at term after an uneventful pregnancy with normal height, weight and head circumference. Jaundice appeared at 15 days of age. Ventricular septal defects and valvular pulmo...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(2):157-61. DOI: 2001
De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris [0.03%]
新发的染色体3环状染色体导致女孩拇指发育不良和虹膜缺损病症
L O Barajas-Barajas,S Velarde-Félix,J Elizarrarás-Rivas et al.
L O Barajas-Barajas et al.
We describe a female child with a ring chromosome 3, found after investigation for short stature. Her karyotype was 46,XX,r(3)(p26-q29). Her phenotype mainly differs from that of the nine patients previously reported with ring chromosome 3,...
Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication [0.03%]
6号染色体部分三体综合征的一例报道及6q23近端重复一例
F Causio,R Fischetto,F Carnevale et al.
F Causio et al.
In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de novo 6q+ marker chromosome. A male patient with peculiar features of > showed a direct duplic...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(2):145-50. DOI: 2001
Combined trisomy 9P and Shprintzen syndrome resulting from a paternal t(9;22) [0.03%]
父亲t(9;22)染色体易位导致的9号染色体短臂三体型联合Shprintzen综合征
H Komatsu,A Kihara,E Komura et al.
H Komatsu et al.
The authors report on a female infant with partial trisomy 9 (pter-->q12) together with partial monosomy 22 (pter-->q11.23) that included DiGeorge critical region (DGCR), as a result of adjacent-2 disjunction. In addition to the clinical fe...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(2):137-43. DOI: 2001
One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC) [0.03%]
DC患者中DKC1的新突变及两个复发性错义突变
N S Heiss,A Mégarbané,S M Klauck et al.
N S Heiss et al.
X-linked dyskeratosis congenita (DKC) is a progressive multisystem disorder most severely affecting tissues with a high cellular turnover such as skin, mucous membranes, and blood. Most patients die of bone marrow failure, although the chan...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(2):129-36. DOI: 2001
Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population [0.03%]
高胆固醇血症的产前诊断：高危南非人群中的DNA分析的重要性
J Vergotine,R Thiart,E Langenhoven et al.
J Vergotine et al.
In this report on the outcome of the first prenatal diagnosis performed for familial hypercholesterolemia (FH) in a South African family, we aim to demonstrate the value of a population-directed screening strategy to identify FH patients in...
A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers [0.03%]
一对不育兄弟染色体1和22之间易位(t(1;22)(q11;p11))呈母系遗传
I Lorda-Sanchez,C Tejedor,R Sanz et al.
I Lorda-Sanchez et al.
We report two infertile brothers presenting with azoospermia and oligozoospermia. Cytogenetic studies using G-banding and FISH analysis on lymphocyte cultures revealed an autosomal balanced reciprocal translocation t(1;22)(q11;p11) in both ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(1):95-100. DOI: 2001
Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence [0.03%]
胎儿不动综合征的首个超声波影像标志为颈部囊性淋巴管瘤的形成
I Witters,P H Moerman,F A Van Assche et al.
I Witters et al.
We report first trimester cystic hygroma colli with subsequent resolution and development of a fetal akinesia deformation sequence. Neuropathological examination of the brain showed intra- and extracellular white matter edema while spinal c...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(1):91-4. DOI: 2001
Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features [0.03%]
3号体染色体远端部分三体型：无重大畸形表现的常染色体三体型
E Smeets,L Vandenbossche,J P Fryns
E Smeets
Whereas in the great majority of autosomal duplications/deficiencies a clinically recognizable dysmorphic syndrome is present, distal 3p duplication is not associated with major dysmorphic signs. We present the clinical data and molecular c...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(1):85-9. DOI: 2001
M Seven,A Yuksel,A Ozkilic
M Seven
The term symbrachydactyly describes syndactyly accompanied by brachydactyly. Brachydactyly is seen in middle phalanges of both hands and feet and very short in length or absent. As for syndactyly it is a cutaneous type. It has always been o...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(1):77-83. DOI: 2001