✦ LIBER ✦

Deletion 8p syndrome

✍ Scribed by Digilio, Maria Cristina; Marino, Bruno; Guccione, Paolo; Giannotti, Aldo; Mingarelli, Rita; Dallapiccola, Bruno

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 21 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980217)75:5<534::aid-ajmg15>3.0.co;2-l

No coin nor oath required. For personal study only.

✦ Synopsis

The number of patients heterozygous for terminal deletion of the short arm of chromosome 8 (del8p) has increased progressively in parallel with the improved ability of cytogenetic techniques to recognize small imbalances. A del(8p) syndrome has been outlined. We reported a consistent association with atrioventricular canal (AVC) [Marino et al., 1992;Digilio et al., 1993], and have evaluated 6 additional children with del(8p). Personal observations support and expand the del(8p) syndrome phenotype (Tables I andII).

GROWTH IMPAIRMENT

Low birth weight was present in about 2/3 of patients, while half of them showed subsequent slow growth. This was quite a common finding in children with larger deletions, while it was absent in those with the most terminal deletions. Microcephaly was found in 6 of 8 patients. Contrary to previous inference, microcephaly was present not only in patients with deletion of 8p21-p22, but also in 2 children with del(8) (p23).

FACIAL ANOMALIES

Minor facial anomalies were documented in all patients, and included epicanthal folds, microstomia, and apparently low-set and malformed ears. However, facial appearance was considered grossly normal in patients with terminal deletions.

CHEST

Short neck with redundant nuchal skin, broad chest, and wide-set nipples were recorded in about 1/2 of patients.

📜 SIMILAR VOLUMES

De novo 16p deletion: ATR-16 syndrome

✍ Lindor, Noralane M.; Valdes, Maria G.; Wick, Myra; Thibodeau, Stephen N.; Jalal, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

We describe a child with ␣-thalassemia ascertained by newborn screening. Evaluation at 9 months of age showed minor anomalies and developmental delay. Chromosomal analysis demonstrated a de novo deletion of the most distal portion of the short arm of chromosome 16, which contains the ␣-globin genes.

Inverted duplication/deletion of chromos

Inverted duplication/deletion of chromosome 8p: mild clinical phenotype

✍ Yenamandra, A.; Perrone, R.; McLaughlin, J.; Mehta, L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views

Campomelic syndrome and deletion of SOX9

✍ Olney, Patricia N.; Kean, Leslie S.; Graham, David; Elsas, Louis J.; May, Kristi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 1 views

The human SOX9 gene, located in chromosome region 17q24.1-25.1, encodes a transcription factor involved in chondrogenesis and testis development. Mutations in this gene cause campomelic syndrome (CMPS) with autosomal sex reversal. Here we describe an infant girl with CMPS and an interstitial deletio

A further case of choanal atresia in the

A further case of choanal atresia in the deletion (9p) syndrome

✍ Shashi, Vandana; Berry, David; Stamper, Tara H.; Pettenati, Mark 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 1 views

The deletion 9p syndrome is a well-recognized entity, with about 100 reported cases. Characteristic findings include trigonocephaly, upslanting palpebral fissures, epicanthal folds, anteverted nares, long philtrum, posteriorly angulated and poorly formed ears, excess of whorls on the fingers, and me

Deletion (9) (p13.1 p21.1)

✍ Scaglia, Fernando; Bodamer, Olaf A.F.; Berend, Sue Ann; Adam, Louise R.; Shaffer 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB

We report on a 22-month-old girl with minor facial anomalies, global developmental delay, growth retardation, seizures, and leukoencephalopathy. Initial clinical assessment suggested the diagnosis of Williams syndrome. Results of fluorescence in situ hybridization testing for elastin were normal. Ho

Wolf-Hirschhorn and Pitt-Rogers-Danks sy

Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions

✍ Wright, Tracy J.; Clemens, Michele; Quarrell, Oliver; Altherr, Michael R. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

Wolf-Hirschhorn syndrome (WHS), a multiple congenital malformation syndrome, and Pitt-Rogers-Danks syndrome (PRDS), a rare condition with similar anomalies, were previously thought to be clinically distinct conditions. While WHS has long been associated with deletions near the terminus of 4p, severa