Summary of data from subjects with chromosomal changes likely to have contributed to diaphragm defects
| Final Karyotype | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 |
| 46,XY,del(8)(q22.3q23.1) | 46,XY,del(8)(q23.1q23.1) | 46,XX,del(8)(q22.3q24.23) | 46,XY,del(1)(q41q42.12) | 46,XY,del(16)(p11.2p11.2) | 46,XY,del(16)(p11.2p11.2) | 47,XX,+der(13)t(11;13)(q23.2;q12.3) | 46,XY,del(17)(q12.2-q12.2) | |
| Minimal/ maximal affected region (hg19) | Chromosome 8 deletion 105 914 640-106 907 764 (∼993 kb)/ 105 880 441-106 922 626 (∼1.04 Mb) | Chromosome 8 deletion 106 812 277-107 420 029 (∼608 kb)/ 106 800 200-107 511 467 (∼711 kb) | Chromosome 8 deletion 104 516 737-136 746 871 (∼32.2 Mb)/ 104 508 082-136 809 150 (∼32.3 Mb) | Chromosome 1 deletion 223 076 895-225 311 293 (2.2 Mb)/ 223 073 839-225 318 623 (2.2 Mb) | Chromosome 16 deletion 29 652 999-30 199 351 (∼554 kb)/ 29 350 831-30 332 522 (∼982 kb) | Chromosome 16 deletion 29 502 653-30 274 073 (∼771 kb) defined clinically with no minimum or maximum region specified. | Chromosome 11 duplication 112 355 952-134 927 114 (26.6 Mb)/ 112 347 267-134 927 114 (26.6 Mb) Chromosome 13 duplication 19 296 527-32 250 725 (12.9 Mb)/ 19 168 012-32 271 202 (13.1 Mb) | Chromosome 17 deletion 42 633 066-42 650 463 (∼17.4 kb)/ 42 622 151-42 657 504 (∼35.4 kb) |
| Confirmation method | Real-time qPCR | Real-time qPCR | Chromosome analysis | FISH | Real-time qPCR | FISH | Chromosome analysis | Real-time qPCR |
| Inheritance | Paternal | Maternal | De novo | De novo | De novo | De novo | Maternal balanced translocation | De novo |
| Age | 4 years old | 2 days old | 1 day old | 2 years old | 2 years old | 17 days old | 8 days old | 2 years old |
| Gender | Male | Male | Female | Male | Male | Male | Female | Male |
| Ethnicity | Mixed | Caucasian | Hispanic | Caucasian | Mixed | Caucasian | Hispanic | Caucasian |
| Prenatally identified abnormalities, exposures, and prenatal karyotype | No abnormalities identified | CDH, intrauterine growth retardation, single umbilical artery, 46,XY | CDH, short extremities, oedema/ascites, polyhydramnios,46,XX,del(8)(q22q24) | No abnormalities identified on two prenatal ultrasounds | CDH, maternal smoking in first trimester | CDH, 46,XY | CDH, polyhydramnios and intrauterine growth retardation | CDH and omphalocele detected, 46,XY |
| Birth history | Vaginal delivery at term, vomiting 2 days after birth | Caesarean section at 36 3/7 weeks for abnormal fetal heart rate and decreased movement | Spontaneous vaginal delivery at 34 5/7 weeks | Spontaneous vaginal delivery at 37 weeks | Delivery at 37 weeks, after birth he decompensated and required 20 min of CPR | Repeat caesarean section at 39 6/7 weeks | Spontaneous vaginal delivery at 37 3/7 weeks | Scheduled caesarean section at 37 1/7 weeks |
| Birth weight, length and OFC | Weight 3.8 kg | Weight: 1.72 kg; length 42 cm; OFC 29.5 cm | No information available | Weight 3.2 kg; length 49.5 cm | Weight estimated at 2.5 kg; length 49 cm; OFC 34 cm | Weight ∼3.5 kg; length 50 cm; OFC 35.5 cm | No information available | Weight 2.2 kg; length 45 cm, OFC 33 cm |
| Diaphragm | Diaphragmatic eventration | Left-sided CDH | Large left-sided CDH | CDH identified at 11 months | Right-sided CDH | Left-sided CDH | Large left-sided CDH | Anterior medial CDH |
| Cardiac | No known abnormalities | No known abnormalities | No known abnormalities | No known abnormalities | No structural abnormalities noted on echo | No structural abnormalities noted on echo | Small perimembranous VSD, secundum ASD | Large perimembranous VSD, PFO verses ASD |
| Additional anomalies | Intestinal malrotation, radioulnar synostosis | None | All extremities were symmetrically short with fixed flexion of the distal upper extremities. | Right cerebral volume loss with ex vacuo dilatation of the right lateral ventricle, diffuse thin cortical mantle, atrophy of right hippocampus, thin corpus callosum, left-sided cryptorchidism with non-attachment to the epididymis | Micro-retrognathia, cleft palate, right inguinal hernia and bilateral post-axial polydactyly (paternal) | Hypoplastic, non-articulating thumbs, extra thoracic vertebra, 13 pairs of ribs | Clouded corneas, cupped optic nerves, cleft palate, small anterior anus, prominent forehead, large anterior fontanel, posteriorly rotated low set ears, micro-retrognathia, wide spaced hypoplastic nipples, right single palmar crease, tapering fingers, prominent heels | Coronal craniosynostosis, diminished CNS white matter with thinning of the corpus callosum, omphalocele, bilateral inguinal hernias, left-sided cryptorchidism |
| Clinical course/development | Only two words at age 2 years. Responded well to speech therapy. Now normal | Died on the 2nd day of life with respiratory insufficiency and pulmonary hypertension | Died shortly after delivery | Persistent hypoglycaemia after birth, gross motor, fine motor and language delay, seizures starting at 20 months | No oxygen requirement at 24 months but still receiving supplemental nutrition via gastric tube | Died on the 17th day of life with severe respiratory insufficiency and pulmonary hypertension | Support was withdrawn at 8 days of age. Findings at autopsy included abnormal lung fissures and coronary artery anomalies | At 28 months could walk with a walker, nutritional support via gastric tube, ventilator support with acute illness |
ASD, atrial septal defect; CDH, congenital diaphragmatic hernia; CNS, central nervous system; CPR, cardiopulmonary resuscitation; echo, echocardiogram; FISH, fluorescence in situ hybridisation; OFC, occipital frontal circumference; PFO, patent foramen ovale; VSD, ventricular septal defect.