A S Karadag,S G Bilgili,I H Yavuz et al.
A S Karadag et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):343-6. DOI: 2015
SPINAL MUSCULAR ATROPHY TYPE 1 AND POLAND SYNDROME: A NOVEL ASSOCIATION IN A MEXICAN FEMALE INFANT [0.03%]
脊髓性肌肉萎缩症Ⅰ型和波兰综合征：墨西哥一名女婴中的新相关性
V M Salinas-Torres
V M Salinas-Torres
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):339-42. DOI: 2015
A CASE OF MACROCEPHALY-CAPILLARY MALFORMATION SYNDROME PRESENTING WITH HOT WATER EPILEPSY [0.03%]
热性惊厥的巨颅症毛细血管畸形综合征一例
S Yilmaz,H Tekin,O Kitis et al.
S Yilmaz et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):333-7. DOI: 2015
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION [0.03%]
4q21.22q21.23微重复一例伴有肌阵挛-发作性_ATD综合征患者
V Ottaviani,A Bartocci,M Pantaleo et al.
V Ottaviani et al.
Myoclonicastatic epilepsy (MAE) is a rare form of symptomatic generalized epilepsy of uncertain etiology. To search the possible genetic basis of the disorder, here we investigate a 15 year-old patient with MAE, who is the only person prese...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):327-32. DOI: 2015
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS [0.03%]
胎儿眼眶前脑无裂畸形、唇腭裂、泄殖腔脊序列征和先天性会阴疝
K M Girisha,S S Nayak,A Shukla et al.
K M Girisha et al.
We report on a fetus with alobar holoprosencephaly, complete cleft lip and palate, urorectal septum malformation sequence and perineal hernia. To our knowledge this appears to be a novel fetal malformation syndrome.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):321-5. DOI: 2015
ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23 [0.03%]
食管闭锁伴气管食管瘘复发和22q11.23微重复综合征
S Puvabanditsin,E Garrow,M February et al.
S Puvabanditsin et al.
The microduplication 22q11.2 syndrome has a wide range of clinical manifestations. The phenotype ranges from normal to mental retardation and congenital anomalies. Esophageal atresia/tracheoesophageal fistula (EA/TEF) has recently been link...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):313-20. DOI: 2015
CEREBRAL VENOUS THROMBOSIS AND TURNER SYNDROME: A RARE REPORTED ASSOCIATION [0.03%]
唐氏综合征并发脑静脉血栓的罕见报道
A Guler,S Alpaydin,F Bademkiran et al.
A Guler et al.
Turner Syndrome is the only known viable chromosomal monosomy, characterised by the complete or partial absence of an X chromosome. It's the most common chromosomal abnormality in females. Apart from the well known dysmorphic features of th...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):307-11. DOI: 2015
PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH [0.03%]
产前诊断出的新发生的额外标志染色体源于16号染色体——使用阵列 comparative genomic hybridization（CGH）方法检测
S Yakut,Z Cetin,C Sanhal et al.
S Yakut et al.
A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker chromosome was observed with a frequency of 50% in cultured amniocytes. Parental ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(3):299-305. DOI: 2015
ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA [0.03%]
膈疝病例中的相关非膈缺损
C Stoll,Y Alembik,B Dott et al.
C Stoll et al.
Cases with congenital diaphragmatic hernia (CDH) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CDH in a defined population. The anomalies assoc...
LARYNGEAL WEB ASSOCIATED WITH CHROMOSOME 22q11 DELETION IN A PRETERM INFANT [0.03%]
喉蹼并22q11染色体缺失综合征的早产儿1例报告
B Vatansever,G Demirel,S Gundogdu et al.
B Vatansever et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):277-80. DOI: 2015