A BOY WITH RING CHROMOSOME-15 DERIVED FROM A T(15Q, 15Q) ROBERTSONIAN TRANSLOCATION IN THE MOTHER - CYTOGENETIC AND BIOCHEMICAL FINDINGS

被引：22

作者：

NERI, G ^{[1
]}

RICCI, R ^{[1
]}

PELINO, A ^{[1
]}

BOVA, R ^{[1
]}

TEDESCHI, B ^{[1
]}

SERRA, A ^{[1
]}

机构：

[1] UNIV CATTOLICA SACRO CUORE, SCH MED, INST PEDIAT, I-00168 ROME, ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1983年 / 14卷 / 02期

关键词：

D O I：

10.1002/ajmg.1320140211

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：307 / 314

页数：8

共 24 条

[1]

[Anonymous], 1976, HDB ENZYME ELECTROPH

[2]

BOYUM A, 1968, SCAND J CLIN LAB INV, VS 21, P77

[3] ASSIGNMENT OF CYTOPLASMIC ALPHA-MANNOSIDASE (MANA) AND CONFIRMATION OF MITOCHONDRIAL ISOCITRATE DEHYDROGENASE (IDHM) TO THE Q11-]QTER REGION OF CHROMOSOME-15 IN MAN [J].

CHAMPION, MJ ;

BROWN, JA ;

SHOWS, TB .

CYTOGENETICS AND CELL GENETICS, 1978, 22 (1-6) :498-502

[4] ASSIGNMENT OF STRUCTURAL GENES FOR ALPHA SUBUNIT OF HEXOSAMINIDASE A, MANNOSEPHOSPHATE ISOMERASE, AND PYRUVATE-KINASE TO REGION Q22-QTER OF HUMAN CHROMOSOME-15 [J].

CHERN, CJ ;

KENNETT, R ;

ENGEL, E ;

MELLMAN, WJ ;

CROCE, CM .

SOMATIC CELL GENETICS, 1977, 3 (06) :553-560

[5]

DINGLE JD, LYSOSOMES LABORATORY, P79

[6]

EMERBERGER JM, 1971, HUM GENET, V11, P295

[7]

FERGUSONSMITH MA, 1979, CYTOGENET CELL GENET, V25, P59, DOI 10.1159/000131400

[8]

FORABOSCO A, 1972, ANN GENET-PARIS, V15, P267

[9] RING CHROMOSOME-15 SYNDROME [J].

FRYNS, JP ;

TIMMERMANS, J ;

DHONDT, F ;

FRANCOIS, B ;

EMMERY, L ;

VANDENBERGHE, H .

HUMAN GENETICS, 1979, 51 (01) :43-48

[10] RING CHROMOSOME-15 - 46,XX,R(15) (P11Q26) IN A GIRL [J].

FUJITA, H ;

MATSUMOTO, H .

JAPANESE JOURNAL OF HUMAN GENETICS, 1978, 23 (03) :233-237

← 1 2 3 →