D Lacombe,J B Thambo,M Fayon et al.
D Lacombe et al.
We report on the cases of two first-degree non-consanguineous cousins with infantile-onset Pompe disease, a rare autosomal recessive disease. The first patient developed cardiorespiratory failure at age 1 year. When she was 4 her male cousi...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):227-31. DOI: 2015
A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE [0.03%]
NPR2基因的新突变一马鲁托亚型acrosemomatic骨发育不良患者的基因及临床特征分析
S Ozemri Sag,O Gorukmez,A Topak et al.
S Ozemri Sag et al.
Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):219-25. DOI: 2015
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES [0.03%]
新的13q缺失综合征病例报告：严重未描述的特征
E Garcia-Rodriguez,E Garcia-Garcia,A Perez-Sanchez et al.
E Garcia-Rodriguez et al.
A new observation of 13q deletion syndrome: severe undescribed features: 13q deletion syndrome is characterized by a wide phenotypic spectrum resulting from a partial deletion-of the long arm of chromosome 13. It consists predominantly of m...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):213-7. DOI: 2015
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION [0.03%]
脯氨酶缺乏患儿出现炎症性肠病样表现：一种新的临床类型
Z Kuloglu,A Kansu,N Serwas et al.
Z Kuloglu et al.
Prolidase deficiency (PD) is an inherited disorder associated with cutaneous ulcers, intellectual disability, unusual facial appearance, skeletal deformities, hematological anomalies, splenomegaly, and chronic infections. We report a girl w...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):205-11. DOI: 2015
DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA [0.03%]
focal dermal hypoplasia家系中PORCN微缺失的检测研究
M Seven,A Güven,T M Bozoğlu et al.
M Seven et al.
Focal dermal hypoplasia (FDH), an X-linked dominant disease with a highly variable phenotype, presents mainly with congenital linear pigmentation of the skin, herniation of fat through the dermal defects and multiple papillomas. PORCNmicrod...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):195-204. DOI: 2015
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE [0.03%]
MGP基因纯合突变所致克特尔综合征两姐妹的临床差异性分析
B Tüysüz,B Cinar,S Laçiner et al.
B Tüysüz et al.
Keutel syndrome (KS) is an autosomal recessive disease characterised by abnormal cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenosis, hearing loss and midface retrusion. KS is caused by homozygous mutations i...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):187-94. DOI: 2015
MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM [0.03%]
新型1q32q42重复的微阵列分析及该染色体异常相关临床表型的描述
O Gorukmez,H Aydin,O Gorukmez et al.
O Gorukmez et al.
We present a 9 month-old baby girl with de novo pure interstitial duplication 1q. The girl has dysmorphic craniofacial features as well as neuromotor retardation, multiple subcutaneous solid tissue lesions, urogenital anomalies, cardiac def...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):181-6. DOI: 2015
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY [0.03%]
磨牙征与顶叶发育不全综合征——一例波兰家系及KIF7综合征学综述
M Krajewska-Walasek,M Kugaudo,M Jędrzejowska et al.
M Krajewska-Walasek et al.
Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual d...
MULTIPLE CONGENITAL ANOMALIES IN A CHILD WITH 47,XY,+der(8;9)(p10;p10): A CASE REPORT [0.03%]
一个具有47,XY,+der(8;9)(p10;p10)核型的孩子出现多重先天畸形的病例报告
O Gorukmez,O Gorukmez,Ozemri S Sag et al.
O Gorukmez et al.
Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome. We report a complex sSMC derived from chr...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):163-9. DOI: 2015
A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION [0.03%]
一条父系平衡易位7;20不分离导致的7p13-pter重复和20pter-p13缺失纯合患者的临床表型分析
M O Eid,M M Eid,A K Kamel et al.
M O Eid et al.
Duplication of the short arm of chromosome 7 is a genomic disorder presenting with distinctive facies including hypertelorism, large anterior fontanel, and intellectual disability. A 2½-year-old Egyptian girl was referred because of cleft ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):153-61. DOI: 2015