PARTIAL TRISOMY OF 13(PTER-]Q12) DUE TO "47,XY,+DER(13),T(13-22)(Q12-Q13)MAT

被引：10

作者：

MOEDJONO, SJ

SPARKES, RS

机构：

[1] UNIV CALIF LOS ANGELES,CTR HLTH SCI,DEPT PEDIAT,DIV MED GENET,LOS ANGELES,CA 90024

[2] UNIV CALIF LOS ANGELES,CTR HLTH SCI,DEPT MED,LOS ANGELES,CA 90024

[3] UNIV CALIF LOS ANGELES,CTR HLTH SCI,DEPT PSYCHIAT,LOS ANGELES,CA 90024

来源：

HUMAN GENETICS | 1979年 / 50卷 / 03期

关键词：

D O I：

10.1007/BF00399388

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 36-month-old boy presented with short stature, short neck, shield-shaped chest, and mental retardation. Chromosome analysis showed trisomy for the short arm and the proximal portion of the long arm of chromosome 13 [47,XY,+der(13),t(13;22)(q12;q13)mat]. The patient's mother has a balanced translocation between the long arms of chromosomes 13 and 22 [46,XX,t(13;22)(q12;q13)]. The patient's neutrophils showed an elevated number of nuclear projections and his fetal hemoglobin level was undetectable. © 1979 Springer-Verlag.

引用

页码：241 / 246

页数：6

共 19 条

[1] BLOOM GE, 1968, AM J HUM GENET, V20, P495
[2] IMPROVED TECHNIQUE FOR SELECTIVE SILVER STAINING OF NUCLEOLAR ORGANIZER REGIONS IN HUMAN-CHROMOSOMES
BLOOM, SE
GOODPASTURE, C
[J]. HUMAN GENETICS, 1976, 34 (02) : 199 - 206
[3] SIBLINGS WITH DIFFERENT TYPES OF CHROMOSAL ABERRATIONS DUE TO D/E-TRANSLOCATION OF MOTHER
HAUSCHTE.E
MURSET, G
PRADER, A
BUHLER, E
[J]. CYTOGENETICS, 1966, 5 (05): : 281 - &
[4] DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN CHROMOSOMAL TRIPLICATION - D1 TRISOMY SYNDROME
HUEHNS, ER
HECHT, F
KEIL, JV
MOTULSKY, AG
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1964, 51 (01) : 89 - &
[5] QUINACRINE FLUORESCENCE AND Q-BANDING PATTERNS OF HUMAN CHROMOSOMES .1. EFFECTS OF VARYING FACTORS
LIN, CC
VANDESANDE, H
SMINK, WK
NEWTON, DR
[J]. CANADIAN JOURNAL OF GENETICS AND CYTOLOGY, 1975, 17 (01): : 81 - 92
[6] LOEVY HT, 1977, CLEFT PALATE J, V14, P239
[7] LUTZNER MA, 1966, LAB INVEST, V15, P597
[8] MONTELEONE P L, 1969, Journal of Medical Genetics, V6, P394, DOI 10.1136/jmg.6.4.394
[9] NIEBUHR E, 1977, NEW CHROMOSOMAL SYND, P273
[10] NOEL B, 1976, CLIN GENET, V9, P593

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