✦ LIBER ✦

PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 13q ASSOCIATED WITH OCCIPITAL ENCEPHALOCOELE IN A FETUS

✍ Scribed by CHIH-PING CHEN; FEN-FEN LIU; SHEAU-WEN JAN; KUO-GON WANG; CHUNG-CHI LAN

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 550 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199607)16:7<664::aid-pd924>3.0.co;2-k

No coin nor oath required. For personal study only.

✦ Synopsis

The pre-and postnatal findings of a fetus with a de novo del(l3)(pter+q21:) and an occipital encephalocoele are described. Maternal serum alpha-fetoprotein (AFP) screening at 19 weeks' gestation demonstrated a high level of 2.5 multiples of the median (MOM) and ultrasonography at 27 weeks' gestation showed severe intrauterine growth retardation, cardiomegaly, an occipital encephalocoele, and a calvarial defect. Genetic amniocentesis revealed a karyotype of 46,XX,del( 13)(pter+q21:). The proband postnatally displayed additional abnormalities such as microphthalmia, hypertelorism, large low-set ears, and micrognathia. We discuss the association of central nervous system (CNS) malformations with 13q deletions and emphasize that pregnancies with neural tube defects warrant cytogenetic analysis, especially when additional fetal abnormalities and neonatal dysmorphism are observed.

📜 SIMILAR VOLUMES

Prenatal diagnosis of partial trisomy 1q

Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis

✍ Tracy L. Pressey; R. Douglas Wilson; Stefanie Kasperski; Michael W. Bebbington; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 2 views

Prenatal diagnosis of de novo isochromos

Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus

✍ Chih-Ping Chen; Schu-Rern Chern; Chen-Chi Lee; Li-Feng Chen; Chun-Yu Chuang; Min 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 2 views

We report on the prenatal diagnosis, genetic studies, and pathology of a case with de novo isochromosome 13q. A 31-year-old primigravida was referred for genetic counselling at 26 weeks' gestation due to the sonographic findings of intrauterine growth retardation and microcephaly. Level II ultrasono

PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 3

PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 3p AND PARTIAL TRISOMY 2p IN A FETUS ASSOCIATED WITH SHORTENING OF THE LONG BONES AND A SINGLE UMBILICAL ARTERY

✍ CHIH-PING CHEN; FEN-FEN LIU; SHEAU-WEN JAN; SHUAN-PEI LIN; CHUNG-CHI LAN 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 737 KB

The prenatal and postnatal findings of a fetus with partial deletion of 3p25+pter and duplication of 2p25.3-ipter are described. The proband postnatally displayed mental and growth retardation, psychomotor delay, microcephaly, ptosis, micrognathia, a narrow palate, and cryptorchidism. All of these a

Prenatal diagnosis of partial trisomy 4q

Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf–Hirschhorn critical region in a fetus with split hand malformation

✍ Erwin Petek; Klaus Wagner; Horst Steiner; Heinz Schaffer; Peter M. Kroisel 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB 👁 2 views

We describe the results of prenatal analyses and postnatal ®ndings in a male fetus with a partial trisomy for the long arm and a small terminal monosomy for the short arm of chromosome 4 with the following karyotype: 46,XY,add(4)(p16.3).ish dup(4)(q26qter)(wcp4+,D4S2336x3,AFMb280xa5x2,4ptel-,WHCR-).

Prenatal diagnosis of partial trisomy 3p

Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia

✍ Chih-Ping Chen; Koenraad Devriendt; Chen-Chi Lee; Wen-Lin Chen; Wayseen Wang; Ta 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB 👁 1 views

We report the prenatal diagnosis of partial trisomy 3p(3p23<pter) and monosomy 7q(7q36<qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine

PRENATAL DIAGNOSIS OF A DELETION OF 18q

PRENATAL DIAGNOSIS OF A DELETION OF 18q IN A FETUS ASSOCIATED WITH MULTIPLE-MARKER SCREEN POSITIVE RESULTS

✍ CHIH-PING CHEN; SCHU-RERN CHERN; FEN-FEN LIU; SHEAU-WEN JAN; CHEN-CHI LEE; YI-CH 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 666 KB

We report here the observations of positive maternal serum screening tests for Down syndrome, cytogenetic and molecular analysis, and dysmorphic fetal features in a pregnancy with 18q-syndrome. A 33-year-old primigravida was referred for genetic counselling because of multiple-marker screen positive