✦ LIBER ✦

Parental origin of a ring 13 chromosome in a female with multiple anomalies

✍ Scribed by R. Ellen Magenis; Herman E. Wyandt; Kathleen M. Overton; Jean Macfarlane

Publisher: Springer
Year: 1976
Tongue: English
Weight: 876 KB
Volume: 33
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00281894

No coin nor oath required. For personal study only.

✦ Synopsis

A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most distal band of the long arm (13q34) and possible partial loss of the next adjacent long arm band (13q33). The short arm (13q11) was present but the stalk (13p12) and satellite (13p13) regions appeared to be missing.

📜 SIMILAR VOLUMES

Mosaic r(13) resulting in large deletion

Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies

✍ Lorentz, Cindy Pham ;Jalal, Syed M. ;Thompson, Dana M. ;Babovic-Vuksanovic, Dusi 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 211 KB 👁 3 views

A novel chromosome 19p13.12 deletion in

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

✍ Daniel R. Jensen; Donna M. Martin; Stephen Gebarski; Trilochan Sahoo; Ellen K. B 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 2 views

Ring chromosome 4 and Wolf–Hirschhorn sy

Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies

✍ Sevim Balcı; Özlem Engiz; Dilek Aktaş; Ibrahim Vargel; M.S. Beksaç; Kristin Mras 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB 👁 2 views

## Abstract We report on a 16‐month‐old male patient with ring chromosome 4 and deletion of Wolf–Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices.

Identification of a ring chromosome as a

Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies

✍ Butler, Merlin G. ;Roback, Ellen W. ;Allen, G. Andy ;Dev, V. G. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 2 views

Ring chromosome 18 in a fetus with only

Ring chromosome 18 in a fetus with only facial anomalies

✍ Los, Frans J.; van den Berg, Cardi; Braat, Armando P.G.; Cha'ban, Firas K.; Kros 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 491 KB 👁 2 views

We report on a prenatally detected case of ring chromosome 18 [46,XX,r(18)1 in amniotic fluid cells of a fetus with an abnormal facial profile on ultrasound as the only malformation. The chromosome 18 origin of the ring chromosome, of a supernumerary marker chromosome in some cells, and of micronucl

Unique de novo interstitial deletion of

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

✍ Levin, Michael L. ;Shaffer, Lisa G. ;Lewis, Richard A. ;Gresik, Mary V. ;Lupski, 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 362 KB 👁 2 views

W e describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)I who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and di