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Autosomal structural heterozygosity
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Society for Pediatric Research
caf&au-lait spots are known to be present in several paternal aunts and uncles. The infant at birth had normal urinary catecholamines, negative chest roentgenograms, and normal responses to tests for dysautonomia. At 6 months, the infant developed a thoracic mass, elevated urinary norepinephrine and VMA, and malignant cells in her bone marrow. The mass was a 2.2 em. neuroblastoma. Adjacent sympathetic ganglia were normal histologically. It appears clear that the maternal disorder is either genetically or metabolically related to the tumors in the children. The occurrence of aganglionosis in one of the sibs, and of pyloric stenosis in another further suggests a relationship between the tumors and autonomic structure and function in infancy.
60. Predominance oJ hemoglobin Gower 1 in early human
embryonic li[e F r e d e r i c k H e c h t , * A r n o G. M o t u l s k y , * R o n a l d J. L e m i r a , * a n d T h o m a s E. S h e p ard, U n i v e r s i t y of O r e g o n M e d i c a l School, P o r t l a n d , Ore., a n d U n i v e r s i t y of W a s h i n g t o n S c h o o l of M e d i c i n e , S e a t t l e , W a s h . Starch gel eleetrophoresis of hemoglobins from human embryos 25 to 85 ram. in crown-rump (C-R) length disclosed 2 embryonic hemoglobins: ~ Hgb. Gower 1 and Hgb. Gower 2. In all cases these were present as minor hemoglobins with tIgb. F predominating (Cold Spring Harbor Syrup. 29: 327, 1964). We here report hemoglobin studies in 3 smaller embryos with C-R lengths of 21, 18, and 16 mm., and estimated gestational ages 'of 41, 39, and 37 days, respectively. All 3 embryos appeared normal. Blood was obtained by umbilical vessel cannulation; hemolysates were subjected to eleetrophoresis on starch gel; the gels were stained and photographed; the proportions of the various hemoglobins were estimated by transmission densitometry of the negatives. The smaller the embryo the greater was the proportion of embryonic hemoglobin. Hgb. Gower 1 predominated in the 2 smallest specimens. Hgb. F was present in all 3 specimens, as was, in unexpectedly large proportions, a hemoglobin with the mobility of Hgb. A. These findings suggest that in early human embryonic life there is preferential production of Hgb. G~wer 1, which is thought to have the polypeptide structure e4. This suggests that the production of e chains initially exceeds that of other known (% /3, % /~) chains.
61. Autosomal structural heterozygosity H o p e H . P u n n e t t , * M a r i e L. D e s t i n e , * A n g e l o M . D i G e o r g e , L e s t e r Weiss,* a n d V i c t o r C. V a u g h a n , I I I , St. C h r i s t o p h e r ' s
November 1966
H o s p i t a l for C h i l d r e n , a n d T e m p l e U n i v e r s i t y S c h o o l of M e d i c i n e , P h i l a d e l p h i a , Pa. Autosomal structural heterozygosity has been found in 5 phenotypically normal adults; each was the parent of a child with multiple congenital anomalies who represented the proband. In two parents the findings have been interpreted as reciprocal translocations, and segregants of the meiotic translocation quadrivalent have been identified in other family members including the proband. In the third parent (female) a D-D translocation was present and the proband child had simple trisomy 21 (47 chromosomes). The fourth parent is a mosaic for three cell lines, one normal and two with different marker chromosomes. Each marker chromosome has been transmitted independently, two sons inheriting one and a daughter (the proband) the other. The fifth parent had a heteromorphic No. 3 pair, the anomalous chromosome being interpreted as the result of a pericentric inversion. Another five children with various congenital defects were found to have a single heteromorphic pair of chromosomes, The parents of three were normal; the other two families are currently under investigation. Of the 14 chromosomes which could be positively identified, the D group was implicated 5 times, No. 18 three times, B and C groups each twice, and No. 2 and No. 3 each once. Translocation involving chromosome No. 21 have not been included in this report. The pattern of Rh blood group inheritance in one family is consistent with, but not necessarily proof of the locus of that gene on one of the translocation chromosomes.
62. Aneuploidy due to small supernumerary metacentric chromosomes P a u l V. W o o l l e y , Jr., a n d R u b e n M e y e r , * The Variety Club Growth and Developm e n t C l i n i c at t h e C h i l d r e n ' s H o s p i t a l of Michigan, and Wayne State University, Detroit, Mich. Adequate descriptions of four children whose karyotypes contain 47 chromosomes, with the extra body a small metaeentric, have been published. In addition, an extensive pedigree in which a small metacentric body was formed as a result of reciprocal translocation between members of the E and G groups is available. (Uchida: Cytogenetics 3: 81, 1964). The material presented here includes a description of an additional child with a supernumerary metacentric chromosome and a pedigree in which both a normal mother and her abnormal child carry an extra metacentric body. The pros and cons of regarding this anomaly as partial deletion trisomy of an E group chromosome are considered.
Society for Pediatric Research
caf&au-lait spots are known to be present in several paternal aunts and uncles. The infant at birth had normal urinary catecholamines, negative chest roentgenograms, and normal responses to tests for dysautonomia. At 6 months, the infant developed a thoracic mass, elevated urinary norepinephrine and VMA, and malignant cells in her bone marrow. The mass was a 2.2 em. neuroblastoma. Adjacent sympathetic ganglia were normal histologically. It appears clear that the maternal disorder is either genetically or metabolically related to the tumors in the children. The occurrence of aganglionosis in one of the sibs, and of pyloric stenosis in another further suggests a relationship between the tumors and autonomic structure and function in infancy.
60. Predominance oJ hemoglobin Gower 1 in early human
embryonic li[e F r e d e r i c k H e c h t , * A r n o G. M o t u l s k y , * R o n a l d J. L e m i r a , * a n d T h o m a s E. S h e p ard, U n i v e r s i t y of O r e g o n M e d i c a l School, P o r t l a n d , Ore., a n d U n i v e r s i t y of W a s h i n g t o n S c h o o l of M e d i c i n e , S e a t t l e , W a s h . Starch gel eleetrophoresis of hemoglobins from human embryos 25 to 85 ram. in crown-rump (C-R) length disclosed 2 embryonic hemoglobins: ~ Hgb. Gower 1 and Hgb. Gower 2. In all cases these were present as minor hemoglobins with tIgb. F predominating (Cold Spring Harbor Syrup. 29: 327, 1964). We here report hemoglobin studies in 3 smaller embryos with C-R lengths of 21, 18, and 16 mm., and estimated gestational ages 'of 41, 39, and 37 days, respectively. All 3 embryos appeared normal. Blood was obtained by umbilical vessel cannulation; hemolysates were subjected to eleetrophoresis on starch gel; the gels were stained and photographed; the proportions of the various hemoglobins were estimated by transmission densitometry of the negatives. The smaller the embryo the greater was the proportion of embryonic hemoglobin. Hgb. Gower 1 predominated in the 2 smallest specimens. Hgb. F was present in all 3 specimens, as was, in unexpectedly large proportions, a hemoglobin with the mobility of Hgb. A. These findings suggest that in early human embryonic life there is preferential production of Hgb. G~wer 1, which is thought to have the polypeptide structure e4. This suggests that the production of e chains initially exceeds that of other known (% /3, % /~) chains.
61. Autosomal structural heterozygosity H o p e H . P u n n e t t , * M a r i e L. D e s t i n e , * A n g e l o M . D i G e o r g e , L e s t e r Weiss,* a n d V i c t o r C. V a u g h a n , I I I , St. C h r i s t o p h e r ' s
November 1966
H o s p i t a l for C h i l d r e n , a n d T e m p l e U n i v e r s i t y S c h o o l of M e d i c i n e , P h i l a d e l p h i a , Pa. Autosomal structural heterozygosity has been found in 5 phenotypically normal adults; each was the parent of a child with multiple congenital anomalies who represented the proband. In two parents the findings have been interpreted as reciprocal translocations, and segregants of the meiotic translocation quadrivalent have been identified in other family members including the proband. In the third parent (female) a D-D translocation was present and the proband child had simple trisomy 21 (47 chromosomes). The fourth parent is a mosaic for three cell lines, one normal and two with different marker chromosomes. Each marker chromosome has been transmitted independently, two sons inheriting one and a daughter (the proband) the other. The fifth parent had a heteromorphic No. 3 pair, the anomalous chromosome being interpreted as the result of a pericentric inversion. Another five children with various congenital defects were found to have a single heteromorphic pair of chromosomes, The parents of three were normal; the other two families are currently under investigation. Of the 14 chromosomes which could be positively identified, the D group was implicated 5 times, No. 18 three times, B and C groups each twice, and No. 2 and No. 3 each once. Translocation involving chromosome No. 21 have not been included in this report. The pattern of Rh blood group inheritance in one family is consistent with, but not necessarily proof of the locus of that gene on one of the translocation chromosomes.
62. Aneuploidy due to small supernumerary metacentric chromosomes P a u l V. W o o l l e y , Jr., a n d R u b e n M e y e r , * The Variety Club Growth and Developm e n t C l i n i c at t h e C h i l d r e n ' s H o s p i t a l of Michigan, and Wayne State University, Detroit, Mich. Adequate descriptions of four children whose karyotypes contain 47 chromosomes, with the extra body a small metaeentric, have been published. In addition, an extensive pedigree in which a small metacentric body was formed as a result of reciprocal translocation between members of the E and G groups is available. (Uchida: Cytogenetics 3: 81, 1964). The material presented here includes a description of an additional child with a supernumerary metacentric chromosome and a pedigree in which both a normal mother and her abnormal child carry an extra metacentric body. The pros and cons of regarding this anomaly as partial deletion trisomy of an E group chromosome are considered.