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Chromosome 22, microdeletion 22 q11

22q11.2 deletion syndrome (also called DiGeorge syndrome and velocardiofacial syndrome) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. more...

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The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms include heart defects that are often present from birth, an opening in the roof of the mouth (a cleft palate or other defect in the palate), learning disabilities, recurrent infections caused by problems with the immune system, and mild differences in facial features. Affected individuals may also have kidney abnormalities, low levels of calcium in the blood (which can result in seizures), significant feeding difficulties, autoimmune disorders such as rheumatoid arthritis, and an increased risk of developing mental illnesses such as schizophrenia and bipolar disorder.

Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.

Symptoms

Individuals with a 22q11 deletion have a range of findings, including:

  • Congenital heart disease (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus)
  • palatal abnormalities (69%), particularly velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate; characteristic facial features (present in the majority of Caucasian individuals)
  • learning difficulties (70-90%)
  • an immune deficiency regardless of their clinical presentation (77%)
  • hypocalcemia (50%)
  • significant feeding problems (30%)
  • renal anomalies (37%)
  • hearing loss (both conductive and sensorineural)
  • laryngotracheoesophageal anomalies
  • growth hormone deficiency
  • autoimmune disorders
  • seizures (without hypocalcemia)
  • skeletal abnormalities

Thymus, parathyroid glands and heart derive from the same primitive embryonic structure and that is why these three organs are dysfunctioned together in this disease. Affected patients (usually children) are prone to yeast infections.

Cause

The disease is related with genetic deletions (loss of a small part of the genetic material) found on the long arm of the 22nd chromosome. Some patients with similar clinical features may have deletions on the short arm of chromosome 10.

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Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant
From Archives of Pathology & Laboratory Medicine, 6/1/00 by Yamanaka, Shoji

* We present an autopsy case of a 46-day-old male infant with chromosome 22q1 I deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.

(Arch Pathol Lab Med. 2000;124:880-882)

It is now well documented that the majority of cases of DiGeorge syndrome and velocardiofacial syndrome result from a chromosome 22q11 deletion. Patients with this chromosomal anomaly may have variable manifestations in several organs, including cardiac defect of various types, abnormal facies, thymic hypoplasia or aplasia associated with T-cell deficiency, cleft palate, and hypoparathyroidism/hypocalcemia.1-4 Recently, Ryan et a14 reported that 8% (44/558) of the patients in their large series of chromosome 22q11 deletion cases died, usually within 6 months, and all except 1 of the deaths were due to congenital heart disease. Although noncardiac vascular anomalies are common in patients with chromosome 22q11 deletion,2 we found no report referring to abnormalities in the intrapulmonary branches of the pulmonary artery.

The patient described here, a 46-day-old Japanese male infant with chromosome 22q11 deletion, had multiple dissecting pulmonary arterial aneurysms (PAAs) distributed in both lungs, in addition to cardiac defects, abnormal facies, thymic hypoplasia, and hypocalcemia. Pulmonary arterial aneurysm, a rare pathologic condition, usually occurs in the trunk or the main pulmonary artery of adults with various disorders.s-9 In this report, we describe this extremely rare pulmonary vascular lesion and discuss its possible association with chromosome 22q11 deletion. In addition, we briefly comment on the other notable finding, multiple jejunal atresia with apple-peel deformity, which also to our knowledge has not been reported in association with chromosome 22q11 deletion.

REPORT OF A CASE

The male proband was the first child of healthy, nonconsanguineous Japanese parents. The mother and father were 30 years old at the time of his birth. At 34 weeks' gestation, the mother was referred to our hospital because of possible intestinal atresia in the fetus. The patient was born at 35 weeks and 1 day of gestation and weighed 1906 g. Laboratory tests revealed no significant abnormalities except hypocalcemia (1.55-1.88 mmol/L). Further examination revealed a small ventricular septal defect and closing patent ductus arteriosus, which were considered to be non-life-threatening. Surgery for intestinal atresia was performed successfully at day 1. The small bowel showed 5 atretic lesions of the jejunum and absence of the dorsal mesentery. The distal small bowel was considerably reduced in length and was twisted around a marginal artery (apple-peel deformity10). Soon after the operation, the patient developed progressive anemia, thrombocytopenia, and intermittent pulmonary hemorrhage, followed by right cardiac failure, hepatic dysfunction, and renal failure. The patient died of multiple organ failure at day 46. Chromosome analysis was obtained from peripheral blood lymphocyte culture with phytohemagglutinin stimulation. Routine chromosome analysis showed a normal male karyotype, but fluorescence in situ hybridization analysis of peripheral blood lymphocytes revealed microdeletion at chromosome 22q11 [46,XY.ish del(22) (q11.2q11.2) (cosG1+, ADUBP-, TUPLE1-, N25-, cos77-, D0832-, cos40-, cHKAD26-, cosD1 +)], confirming a common large deletion of chromosome 22q11.11 (cosG1, ADUBP, TUPLE, etc, are locus-specific DNA probes that are sequential with cosG1 centromeric and cosD1 telomeric; a plus or minus sign after the locus symbol indicates whether it is present or absent. All loci tested between cosG1 and cosD1 are deleted.)

AUTOPSY FINDINGS

The patient showed external minor abnormalities, including hypertelorism, small mouth, and anteverted nares. The thymus was hypoplastic (0.4 g, expected value 10 g). The heart revealed a small (2 X 2-mm) ventricular septal defect and closing patent ductus arteriosus. The postoperative intestine was patent and appeared to be functioning. The lung showed focal bronchopneumonia, multiple thrombi, and focal hemorrhagic infarcts. Hypertensive vascular changes remained within a mild degree (Heath-Edward grade I/II). Of note was a peculiar lesion in the intrapulmonary branches of the pulmonary arteries. The cut surface of the lung demonstrated dissections of pulmonary artery branches, creating pseudolumens often filled with blood (Figure 1). The pseudolumens were mainly localized within the media (Figure 2). Elastic fiber layers of the media were severely disrupted and disarranged. Some of the lesions were fresh and filled with red blood cells. The others were in chronic phase, showing organizing change, scattered calcification, and collections of hemosiderin-laden histiocytes. There was no significant accumulation of mucoid substance in the media. The lesions, observed in multiple areas of both lungs, were limited to large and medium-sized intrapulmonary branches of the pulmonary artery. The main pulmonary arteries, ductus arteriosus, aorta including the major branches, and veins showed no remarkable change. No overt tear sites were detected grossly; however, microscopic examination demonstrated occasional extension of the lesion to the intima, suggesting that the lesion and the true lumen communicated.

COMMENT

Fewer than 10% of cases with chromosome 22q11 deletion are considered fatal, mostly as a result of congenital heart disease.4 Unfortunately, only a few detailed autopsy records have been described in such cases. In spite of relatively mild congenital heart disease (small ventricular septal defect and closing patent ductus arteriosus), our patient developed obstinate pulmonary hemorrhage and, subsequently, multiple organ failure. Autopsy unexpectedly disclosed multiple dissecting PAAs, which were considered to be the cause of pulmonary hemorrhage, disturbance of pulmonary blood flow, thromboembolism, and constant consumption of platelets.

Pulmonary arterial aneurysm, a rare pathologic condition usually occurring in adults, has various etiologies, including infection, Marfan syndrome, atherosclerosis, vasculitis, and chronic pulmonary hypertension with or without congenital heart disease.9 Pulmonary artery anomalies have often been described in patients with chromosome 22q11 deletion, but most have involved stenosis or atresia of the main pulmonary arteries.12 Dissecting PAA is very rare, usually occurring in the pulmonary trunk or the main pulmonary artery. There has been one case report of chromosome 22q11 deletion with PAA in a neonate, but the PAA involved only the main trunk and showed no dissection.9 Dissecting intrapulmonary PAA is extremely rare, and we found no reports of this lesion during infancy in the English literature. Autopsy in the present case showed no pathologic condition other than pulmonary hypertension, which can cause PAA secondarily. But the pulmonary hypertension noted in this case was too mild to cause PAA in such a short clinical course. The presumed congenital nature of PAA strongly favored primary structural abnormalities in the pulmonary artery.

Goldberg et al2 stated that the most common anomalies in velocardiofacial syndrome, a major component of chromosome 22q11 deletion, are the behavioral manifestations and noncardiac vascular anomalies, most of which are not life-threatening. To our knowledge, no cases of chromosome 22q11 deletion with PAA have been reported to date. Because of the diagnostic difficulty from the clinical point of view, PAA might easily be overlooked unless autopsy is performed. Accumulation of pathologic examinations in the future will clarify whether this rare lesion is a mere coincidental occurrence or a significant complication in patients with chromosome 22q11 deletion.

The other notable finding was multiple jejunal atresia with apple-peel deformity. Recent studies demonstrated intestinal tract abnormalities, especially anal anomalies, in patients with chromosome 22q11 deletion. 13 However, intestinal atresia has not been described in association with chromosome 22q11 deletion. Since intestinal atresia is not an extremely rare anomaly, mere coincidence with chromosome 22q11 deletion in this case is possible. Another explanation is that the multiple jejunal atresia with apple-- peel deformity was related to some structural abnormalities in the mesenteric artery, possibly associated with chromosome 22q11 deletion.

References

1. Young D, Shprintzen RJ, Goldberg RB. Cardiac malformations in the velocardio-facial syndrome. Am I CardioL 1980;643-648.

2. Goldberg R, Motzkin B, Marion R, Scambler PI, Shprintzen RJ. Velo-cardio-facial syndrome: a review of 120 patients. Am Med Genet. 1993;45:313319.

3. Ravnan JB, Chen E, Golabi M, Lebo RV. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am I Med Genet. 1996;66:250-256.

4. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22ql 11 deletions: a European collaborative study. I Med Genet. 1997;34:798-804.

5. Watson AJ. Dissecting aneurysm of arteries other than the aorta. J Pathol BacterioL 1956;72:439-449.

6. Luchtrath H. Dissecting aneurysm of the pulmonary artery. Virchows Arch A Pathol Anat Histopathol. 1981;391:241-247.

7. Nguyen G-K, Dowling GP. Dissecting aneurysm of the pulmonary trunk. Arch Pathol Lab Med. 1989;113:1178-1179.

8. Masuda S, Ishii T, Asuwa N, Ishikawa Y, Kiguchi H, Uchiyama T. Concurrent pulmonary arterial dissection and saccular aneurysm associated with primary pulmonary hypertension. Arch Pathol Lab Med. 1996;120:309-312.

9. Mehraein Y, Wippermann CF, Michael-Behnke I, et al. Microdeletion 22q11 in complex cardiovascular malformations. Hum Genet. 1997;99:433-442.

10. Dickson ]AS. Apple peel small bowel: an uncommon variant of duodenal and jejunal atresia. I Pediatr Surg. 1970;5:595-600.

11. Kurahashi H, Tsuda E, Kohama R, et al. Another critical region for deletion of 22q11: a study of 100 patients. Am I Med Genet. 1997;72:180-185.

12. Momma K, Kondo C, Matsuoka R. Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion. JAm Coll Cardiol. 1996;27:198-202.

13. Worthington S, Colley A, Fagan K, Dai K, Lipson AH. Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? I Med Genet. 1997;34:79-82A.

Shoji Yamanaka, MD; Yukichi Tanaka, MD; Motoyoshi Kawataki, MD; Rieko Ijiri, MD; Kiyoshi Imaizumi, MD; Hiroki Kurahashi, MD

Accepted for publication November 29, 1999.

From the Divisions of Pathology (Drs Yamanaka, Tanaka, and Ijiri), Perinatology (Dr Kawataki), and Medical Genetics (Dr Imaizumi), Kanagawa Children's Medical Center, Yokohama, Japan; and the Division of Clinical Genetics, Department of Medical Genetics, Biomedical Research Center, Osaka University Medical School, Osaka, Japan (Dr Kurahashi).

Reprints: Yukichi Tanaka, MD, Division of Pathology, Kanagawa Children's Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan.

Copyright College of American Pathologists Jun 2000
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