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Diaphragmatic Herniaeand Translocations Involving 8Q22 in Two

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Diaphragmatic Herniaeand Translocations Involving 8Q22 in Two J Med Genet 1994;31:735-737 735 Diaphragmatic herniae and translocations involving 8q22 in two patients J Med Genet: first published as 10.1136/jmg.31.9.735 on 1 September 1994. Downloaded from I K Temple, J C K Barber, R S James, D Burge Abstract it was shown that she had a left sided dia- Two girls with congenital diaphragmatic phragmatic hernia. No other structural ab- herniae are reported. Both were dis- normalities were shown. The pregnancy was covered to have a balanced reciprocal otherwise normal. She was born by emergency translocation involving 8q22.3. In one girl caesarian section at 37 weeks. Birth weight was the translocation was de novo, in the other 2560 g. it was maternally inherited. Uniparental Surgery to correct the posterolateral dia- disomy was excluded in both. 8q22.3 may phragmatic hernia was successful and she has be the location of a gene affecting de- since progressed normally. She sat at 8 months velopment of ihe diaphragm. and was crawling by 13 months. A de- velopmental assessment at 27 months showed (J Med Genet 1994;31:735-737) her to have mild delay. Her development was assessed at a 23 month level. On physical ex- amination her height was on the 10th centile, Congenital diaphragmatic hernia (DH), in weight on the 3rd centile, and head cir- which abdominal organs protrude into the thor- cumference on the 25th centile. She was not, acic cavity, arises because of abnormal de- dysmorphic. Feeding was still a problem but velopment of the diaphragm. The diaphragm she was generally healthy. normally develops from four different em- A karyotype performed in utero showed case bryological structures, the septum transversum, 1 to have a balanced reciprocal 8; 13 trans- the oesophageal mesentery, the pleuro- location and an identical translocation was peritoneal membrane, and the body wall. The found in her mother. The karyotype of case septum transversum makes up the majority of 1 was therefore 46,XX,t(8; 13) (q22.3;q22)mat the diaphragm and is mesodermal in origin. (figs 1 and 2). Her father had normal chro- The diaphragm is formed by 8 weeks of gest- mosomes. Other family members were not tes- ation. Primary failure of the septum trans- ted. The mother was clinically normal but did versum to grow is thought to result in most not undergo further investigations. types of diaphragmatic herniae, including the most common type to present in the neonatal period, the posterolateral or Bochdaleck hernia. http://jmg.bmj.com/ Other types, classified by the location of the defect, include the anterolateral hernia, the .. :, hiatus hernia occurring through an abnormally .ii .,f --o- 4 -d -- large oesophageal opening, and the parasternal il.7 or Morgagni hernia. The latter hernia is thought n d n d n d n d to have a different embryological cause and results from failure ofdevelopment at the costal Figure 1 Partial G banded karyotypes showing the areas on September 30, 2021 by guest. Protected copyright. Wessex Clinical of homology between the normal (n) and derived (d) Genetics Service, and sternal origin of the peripheral mus- chromosomes. The left hand set is from the mother of case Level G, Princess culature. 1 who has the 8;13 translocation and the right hand set Anne Hospital, from case 2 who has the 8;15 translocation. Each set from Coxford Road, The incidence is difficult to ascertain as a significant number of affected babies die at left to right: the normal 8, the derived D group Southampton, chromosome, the normal D group chromosome, and the S09 4HA, UK birth. A live birth incidence between 1 in 4000 derived chromosome 8. Arrows indicate the common I K Temple and 1 in 10 000 has been estimated.' The breakpoint at 8q22.3. Wessex Regional aetiology of this developmental defect is un- Genetics Laboratory, known. DH are increasingly being picked up Salisbury District on routine scan the CASE 2 Hospital, Odstock, prenatally ultrasound but Salisbury, mortality is at least 50%. Familial cases have Case 2 (laboratory reference no 91/2690) was SP2 8BJ, UK been described, although most are sporadic. born after a normal pregnancy at 37 weeks. J C K Barber Multifactorial inheritance seems most likely.2 She was the second child born to non-con- R S James We present two girls who survived with dia- sanguineous white parents. The delivery was Wessex Regional phragmatic hernia and who were both found normal and her birth weight was 2860 g. Soon Paediatric Surgery, to have a balanced reciprocal translocation in- after birth she became tachypnoeic and blue Southampton General Hospital, Tremona volving a breakpoint at 8q22. and was intubated at 1' hours. A right sided Road, Southampton, posterolateral diaphragmatic hernia was diag- S09 4XY, UK nosed. She was transferred to the Regional D Burge Case reports Surgical Unit and was operated on at 2 weeks Correspondence to CASE 1 of age. She was ventilated for a further two Dr Temple. Case 1 (laboratory reference no 92/3725) was weeks. Oesophageal reflux was a continual Received 14 December 1993 Revised version accepted for the first child of unrelated white parents. On problem. A repair of the diaphragmatic hernia publication 11 May 1994 routine ultrasound scan at 20 weeks' gestation was necessary at 6 months of age. 736 Temple, Barber, J7ames, Burge 233 23-2 23.223.3 23.1 23.1 22 22 21.3 21 3 J Med Genet: first published as 10.1136/jmg.31.9.735 on 1 September 1994. Downloaded from 21 2 21 2 21.1 21-1 12 13 13 12 11 2 11.1 WZA 11.2211 I I 11 11 12.1 12.1 112 12 12.2 12.2 12 12.3 12.3 13 13 13 13 1411 14.1 12 21-1 14.2 14.2 21.1 11.2 11.2 21.1 21 2 143 14.3 21.2 11.1 11.1 21.1 21.1 1. 21 3 21.2 21.2 21.3 1121 12 1211.2 21.3 21.3 21.3 13 13 22 1 22.1 14 14 22.1 22.2 22.2 23 223 22 223 15 22.2 ?3 22-3 22.3 23 23 31 31 23 2121 21.3 21.3 24 1 24.1 32 32 22.1 22.1 24-1 22-2 22-2 24 2 24.2 33 33 I 23.3 22.3 24.2 23 In 23 24-3 243 34 34 24.3 3 24 25 25 26.1 26.1 26.2 26326.326.2 n d n d Figure 2 Idiograms of the same sets of chromosomes arranged in the same order as fig 1. At 7 months of age she was progressing phological abnormalities although case 1 shows well. She was sitting with support and was mild developmental delay. Although this chro- responsive. On examination her height, weight, mosome finding may be a chance event it may and head circumference were just below the also point to a putative gene at 8q22.3 which 3rd centile. She had normal hair. Her palpebral affects development of the diaphragm. The fissures were minimally upward slanting but increased risk of in trans- there were uniparental disomy no other dysmorphic features. She location carriers led us to exclude this as a has progressed well and her length and weight possible mechanism in these two children. by 14 months are on the 10th centile. No gene has yet been mapped within the sub- A karyotype showed her to have a balanced band 8q22.3 and only the avian myeloblastosis reciprocal 8; 15 translocation; both her parents viral like had normal chromosomes (V-myb) oncogene homologue 1 gene and the karyotype (MYB4) has been as as of case 2 is therefore 46,XX,t(8;15)(q22.3; mapped precisely 8q22.7 Genes with broader locations which over- http://jmg.bmj.com/ q15)de novo (figs 1 and 2). map lap with 8q22 include the calbindin 1 gene (CABBI, 8q21.3- q22.1), two steroid 11 ,B-hydroxylases of the cytochrome P450 sub- family Xl B (CYB 11 B 1 + polypeptide 1 and MOLECULAR GENETIC ANALYSIS CYPi 132 + polypeptide 2, both within To exclude the possibility of uniparental dis- 8q21-+q22), and the cell surface associated omy, the parental origin of the chromosomes heparan sulphate proteoglycan 1 gene (HSPG1 on September 30, 2021 by guest. Protected copyright. involved in the translocations was determined at 8q22-+q24). None of these is an obvious by the amplification of DNA microsatellite re- candidate gene for DH. peats3 using PCR. Primer sequences included DH has previously been reported in as- LPL3GT (at the lipoprotein lipase locus on sociation with chromosome abnormalities 8p) and Mfd 169 (D8S198),4 MIT- which include an interstitial deletion of chro- MS178(D15S101), MIT-MS112(D15S98), mosome 1 (q32-+q42),8 mosaic tetrasomy 12p,9 MIT-MS34(D13S115),5 and AFM155yb6 ring chromosome 4, and trisomies for chro- (D13S159).6 PCR conditions were those de- mosomes 13, 18, and 21.1 However, in all these scribed Hudson by et al.5 cases, DH is one of a spectrum ofanomalies; by In each case, uniparental disomy was ex- contrast isolated DH has not previously been cluded by the presence of both maternal and associated with any cytogenetic abnormality. paternal alleles for the translocated chro- An increasing number of genes have been mosomes. mapped by virtue oftheir association with chro- mosomal translocations; Human Gene Map- ping 11 lists 28 conditions mapped in this way to the autosomes and 14 conditions mapped Discussion to the X chromosome." Thus, in the present Both girls reported here have a unilateral case, we propose that a gene involved in the posterolateral diaphragmatic hernia and a development of the diaphragm or its con- reciprocal translocation involving a breakpoint stituents may map to the 8q22.3 sub-band.
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