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Tenbrinck MS. 
“New Chromosomal And Malformation Syndromes”. 
Birth Defects. Orig. Art. Ser.. 1975;11(5):345.
Abstract
A BOY BORN AFTER 25 WEEKS' GESTATION IS PRESENTED. DURING THE FIRST TRIMESTER' THE MOTHER HAD EXPERIMENTED WITH 'UPPERS AND DOWNERS', LSD, TOOK 'A LOT OF' DORIDEN fUR SLEEP AND REPEATEDLY SMOKED CANNABIS TO 'HIGHS'. SHE SPOTTED FROM THE THIRD MONTH ON AND BEFORE DELIVERY HAD EARLY TOXEMIA AND ONE EPISODE OF SYNCOPE. AT BIRTH THE CHILD WEIGHED 1109 GM. HE WAS EXCHANGE TRANSFUSED, HAD RDS AND WAS KEPT IN THE HOSPITAL FOR 3 1/2 MONTHS. HIS DEVELOPMENTAL MILESTONES HAVE BEEN DELAYED, SUCH AS WALKING AT 26 MONTHS, TALKING AT 36 MONTHS. HE IS BELOW THE 3RD PERCENTILE IN HEIGHT AND WEIGHT. HE HAS POOR MUSCLE MASS AND SPARSE SUBCUTANEOUS FAT. HIS HEAD IS NARROW. THE EYES HAVE AN ANTI MONGOLOID SLANT AND EP I CANTHUS. THERE IS SLIGHT LEFT LIDPTOSIS. THE BRIDGE OF HIS NOSE IS RATHER PROMINENT. THE PALATE IS HIGHARCHED BUT WITHOUT TOOTH CROWDINGa THE EARS ARE LARGE AND LOW SETa THERE IS A BLOWING SYSTOLIC MURMUR AT THE LEFT STERNAL BORDER. THE HANDS HAVE SLENDER TAPERING FINGERS AND TRANSVERSE PALMAR CREASES (NOT TRUE SIMIAN LINES). THE TESTICLES WERE PALPATED IN THE INGUINAL CANALS. THE IQ WAS 55 AT 3 7/12 YEARS. HYPERTQNIA, MICROGNATHIA, HYPOSPADIAS AND SEIZURES WERE ABSENT. THE CYTOGENETIC REPORT WAS 46,XY,-21,+ SMALL METACENTRIC. CYTOGENETIC STUDY OF THE FAMILY SHOWED NORMAL KARYOTYPES OF MOTHER (46,XX), FATHER (46,XY) AND OLDER SISTER (46,XX). THE MOTHER DENIED DRUG EXPERIMENTATION DURING HER FIRST PREGNANCY.
Notes # : Antimongolism Or Monosomy 21: 46,xy,-21, + Small Metacentric
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