Section 16 — Hitman Cytogenetic* 



pothesis that in the patients referred to there 

 was no loss or duplication of genetic material, 

 the primary defect being possibly due to a 

 (reciprocal?) translocation followed by somatic 

 non-disjunction in some cell lineage. 



(iv) The pattern of inheritance of the present 

 syndrome (transmission from a parent to all 

 her children but one) suggests the possibility 

 of a non random segregation of the aberrant 

 chromosome pairs during maternal gameto- 

 genesis. 



that some of the genes controlling hemoglobin 

 synthesis during fetal life are located on the 

 triplicated chromosome. 



To be published in full in Annals of Human 

 Genetics, London, England. 



16.21. Neonatal Hemoglobin Abnormalities in 

 Trisomy 13-15 Syndrome. Frederick Hecht, 

 Ernst R. Huehns, and Arno G. Motulsky 

 (Seattle, U.S.A.). 



Linkage of genes to specific chromosomes 

 was attempted by examining hemoglobin from 

 individuals with autosomal trisomies by starch 

 gel electrophoresis. No hemoglobin abnormal- 

 ities were found in newborns with trisomy 18 

 or trisomy 21. In two newborns with trisomy 

 13-15 syndrome an excess of Hb-y4 and a minor 

 hemoglobin with slow mobility (Hb-X F ) were 

 found. No such abnormalities were found in two 

 older children (age 20 and 49 months) with 

 trisomy 13-15. 



Hb-"/4 was identified by electrophoresis, 

 ultraviolet spectrum, and alkali denaturation. 

 The following studies of Hb-X F have been done. 

 On starch gel electrophoresis the mobility of 

 Hb-X F resembled that of Hb-Gower 2. On agar 

 gel electrophoresis at pH 6.2 Hb-X F migrated 

 with Hb-A. The alkali denaturation rate of 

 Hb-X F was between that of Hb-A and that of 

 Hb-F. The ultraviolet spectrum of Hb-X F was 

 similar to that of Hb-F. Sedimentation and 

 recombination experiments suggest that Hb-X F 

 has the structure of oc gXf,. 



The net charge difference of the X F -chain 

 from the p A -chain makes it likely that there is 

 more than one amino acid discrepancy between 

 these two chains. A hemoglobin similar to 

 Hb-X F has been found in some small embryos 

 (e.g. the Gower embryo) and rarely in cord blood. 

 It may therefore represent a normal embryonic 

 hemoglobin. Hb-X F might thus be a physiologi- 

 cally and chemically distinct hemoglobin with 

 its own non-oc-chain: the epsilon chain. 



The finding of Hb-X F and excess Hb-y-i in 

 trisomy 13-15 syndrome raises the possibility 



Aided by the U.S. Public Health Service. 



16.22. A New Form of Trisomy 13-15. St. M. Milcu, 



C. Maximilian, V. Stanescu, I. Florea and 

 M. Augustin (Bucarest, Rumania). 



The case of a child, aged 7, presenting Turner's 

 syndrome with a male phenotype, numerous 

 malformations, and a chromosomal trisomy 

 13-15 with an XY sex karyotype is reported. 



The patient had a short stature, a big head with 

 prominent eminences and metopic suture,, 

 hyperteloriam, an antimongolian slit, a trilobated 

 nose, ears with a low implantation and asym- 

 metric auricles, retrognathism, a short and pal- 

 mated neck with a low insertion of the hair in 

 the back, Lyipogenesis of the breast papilla, 

 right umbilical and inguinal hernia, hyperlaxity 

 of the teguments and ligaments, hypoplasia of the 

 genitalia, shortening of the metacarpal and meta- 

 tarsal bones, clinodactyly. The patient also 

 presented hepatomegaly and the air mediasti- 

 nography rendered evident an enlarged thymus. 

 The right hypoplastic testis presented a dissocia- 

 ted spermatic cord, and a dysgenetic histologic 

 structure; the right testis could not be palpated. 

 Sex chromatin was negative and the culture of 

 bone marrow tissue showed the trisomy of one 

 of the 13-15 pairs with an XY karyotype. 



The reported case differs from the other cases 

 of 13-15 trisomy by the clinical aspect of Turner's 

 syndrome with a male phenotype, emphasizing 

 thus the diversity of the clinical aspects brought 

 about by this trisomy. Nevertheless, in this case 

 an association of the trisomy with submicro- 

 scopic alterations of the Y chromosome might 

 exist, but dysgenesis of the gonads might also be 

 an effect of trisomy. 



16.23. A B/G (4-5/21-22) chromosomal Translocation 

 associated with Multiple Congenital Anoma- 

 lies. K. H. Gustavson, S. C. FlNLEY, W. H. 

 Finley and B. Jalling (Stockholm, Sweden). 



A case of a male infant with multiple con- 

 genital anomalies is reported. The anomalies 

 include scaphocephaly with premature synos- 

 tosis of sagittal suture, marked hydrocephalus 

 with dilatation of the ventricular and cisternal 



306 



