Clinical diagnostic tests

Xp;Yp translocation inherited from the father in anSRY, RBM, andTSPY positive true hermaphrodite with oligozoospermia
LUCJUSZ JAKUBOWSKI, ANNA JEZIOROWSKA, MARIA CONSTANTINOU, ZOFIA HELSZER, ANNETTE BAUMSTARK, WALTHER VOGEL, DIANA MIKIEWICZ-SYGULA, BOGDAN KAULZEWSKI

Journal of Medical Genetics Oct 2000, 37 (10) e28; DOI: 10.1136/jmg.37.10.e28
Partial tetrasomy 21 in a male infant
ANNE M SLAVOTINEK, XIAO-NING CHEN, ANN JACKSON, LORRAINE GAUNT, ALASTAIR CAMPBELL, JILL CLAYTON-SMITH, JULIE R KORENBERG

Journal of Medical Genetics Oct 2000, 37 (10) e30; DOI: 10.1136/jmg.37.10.e30
Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity
D BARALLE, A M DEARLOVE, R BEACH, C FFRENCH-CONSTANT, E REID

Journal of Medical Genetics Oct 2000, 37 (10) e31; DOI: 10.1136/jmg.37.10.e31
Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations inMSH2 and MLH1
Sapna Syngal, Edward A Fox, Charis Eng, Richard D Kolodner, Judy E Garber

Journal of Medical Genetics Sep 2000, 37 (9) 641-645; DOI: 10.1136/jmg.37.9.641
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Curt Scharfe, Michael Hauschild, Thomas Klopstock, Antoon J M Janssen, Peter H Heidemann, Thomas Meitinger, Michaela Jaksch

Journal of Medical Genetics Sep 2000, 37 (9) 669-673; DOI: 10.1136/jmg.37.9.669
Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy
LEON G D'CRUZ, CHRISTINA BABOONIAN, HAZEL E PHILLIMORE, ROHAN TAYLOR, PERRY M ELLIOTT, AMANDA VARNAVA, FERGUS DAVISON, WILLIAM J MCKENNA, NICHOLAS D CARTER

Journal of Medical Genetics Sep 2000, 37 (9) e18; DOI: 10.1136/jmg.37.9.e18
Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay
KENJIRO KOSAKI, RIKA KOSAKI, WENDY P ROBINSON, WILLIAM J CRAIGEN, LISA G SHAFFER, SEIJI SATO, NOBUTAKE MATSUO

Journal of Medical Genetics Sep 2000, 37 (9) e19; DOI: 10.1136/jmg.37.9.e19
Deletion (2)(p14p15) in a child with severe neurodevelopmental delay
ISAM M AMIR, KHALIL I AL-TAWIL, MUNEEF M AL-HATHAL

Journal of Medical Genetics Sep 2000, 37 (9) e21; DOI: 10.1136/jmg.37.9.e21
Proximal 10q trisomy: a new case with anal atresia
F W F LAM, W K CHAN, S T S LAM, W P CHU, N S KWONG

Journal of Medical Genetics Sep 2000, 37 (9) e24; DOI: 10.1136/jmg.37.9.e24
Achondroplasia and nail-patella syndrome: the compound phenotype
M J WRIGHT, M C AIN, M V CLOUGH, G A BELLUS, O HURKO, I MCINTOSH

Journal of Medical Genetics Sep 2000, 37 (9) e25; DOI: 10.1136/jmg.37.9.e25

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Clinical diagnostic tests

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