✦ LIBER ✦

Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s

✍ Scribed by Wenger, Sharon L.; Boone, Leslie Y.; Cummins, James H.; Del Vecchio, Maria A.; Bay, Carolyn A.; Hummel, Marybeth; Mowery-Rushton, Patricia A.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 17 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000424)91:5<351::aid-ajmg6>3.0.co;2-a

No coin nor oath required. For personal study only.

✦ Synopsis

A 2-day-old infant was evaluated and suspected of having 22q11.2 deletion based on microcephaly, short and narrow palpebral fissures, a prominent nose with hypoplastic alae nasi, thin fingers, and a right aortic arch. He also had an imperforate anus, which is not in the del 22q11.2 syndrome. Karyotype analysis identified a ring 22, while fluorescence in situ hybridization (FISH) for the DiGeorge syndrome critical region identified a 22q deletion on the other homologue. The karyotype designation was 46,XY,r(22)(p13q13.3).ish del(22)(q11.2q11.2) (D22S75-). Both parents function in the mildly mentally retarded range. The father's karyotype was normal whereas the mother had the ring 22 that was inherited by her son. This is the first case reported for abnormalities on both 22 homologues.

📜 SIMILAR VOLUMES

Enlarged sylvian fissures in infants wit

Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11

✍ Bingham, Peter M.; Zimmerman, Robert A.; McDonald-McGinn, Donna; Driscoll, Debor 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

Two infants with chromosome 22q11 deletion syndrome were noted to have symmetrically enlarged Sylvian fissures on cranial MRI. We compared the size of the Sylvian fissures in neuroimaging studies from 17 other subjects with del 22q11 to agematched disease controls. The mean anterior interopercular d

Two cases with interstitial deletions of

Two cases with interstitial deletions of chromosome 2 and sex reversal in one

✍ Slavotinek, Anne; Schwarz, Christine; Getty, Joan F.; Stecko, Olga; Goodman, Fra 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 1 views

We present two children with de novo interstitial deletions of the long arm of chromosome 2 (karyotypes 46,XY, del(2)(q31.1q31.3) and 46,XY, del(2)(q24.3q31.3), respectively). The first child had severe learning difficulties, growth retardation, unilateral ptosis, small palpebral fissures, a cleft u

Deletion of chromosome 22q11 and pseudoh

Deletion of chromosome 22q11 and pseudohypoparathyroidism

✍ Craigen, William J.; Lindsay, Elizabeth A.; Bricker, J. Timothy; Hawkins, Edith 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB 👁 2 views

A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, cons

Chromosome 22q11.2 interstitial deletion

Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and ?multidimensionally impaired?

✍ Yan, WenLiang; Jacobsen, Leslie K.; Krasnewich, Donna M.; Guan, Xin-Yuan; Lenane 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB

Since its first description almost a century ago schizophrenia with childhood onset, a rare yet devastating disorder, has been diagnosed in children as young as age 5. Recently, the velocardiofacial syndrome, whose underlying cause is interstitial deletions of 22q11.2, was found in 2 of 100 cases of

Retinoblastoma and Hirschsprung disease

Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13

✍ Weigel, Brenda J.; Pierpont, Mary Ella M.; Young, Terri L.; Mutchler, Scott B.; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/ 5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 → q22). This child and a si

Familial deletions of chromosome 22q11

✍ Digilio, Maria Cristina; Marino, Bruno; Giannotti, Aldo; Dallapiccola, Bruno 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 1 views

We read with interest the paper by Leana-Cox et al. [1996] which reported on 5 families with recurrent Di-George/velocardiofacial syndrome and deletions of chromosome 22q11 (del22q11), and which reviewed the pertinent literature. The authors observed that up to 25% of del22q11 are inherited. Particu