✦ LIBER ✦

Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome

✍ Scribed by Tonoki, Hidefumi; Saitoh, Shinji; Kobayashi, Kunihiko

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 10 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980203)75:4<416::aid-ajmg13>3.0.co;2-r

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a Japanese boy with interstitial deletion of chromosome 12q12-q13.12, who had multiple congenital anomalies with severe psychomotor retardation. Most of the clinical manifestations were compatible with Noonan syndrome phenotype except for the absence of cardiac defects. Severe mental retardation and intrauterine onset of growth retardation may have been due to the chromosomal deletion. The interstitial deletion does not overlap a putative Noonan syndrome locus, which was recently assigned to 12q22-qter by linkage analysis. Although correlation between the phenotype and del(12)(q12q13.12) was not confirmed, because this is the first report of deletion of proximal 12q, the deleted segment may contain another Noonan syndrome locus.

📜 SIMILAR VOLUMES

De novo deletion 12q: Report of a patien

De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion

✍ Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen

Trisomy 5q12→q13.3 in a patient with add

Trisomy 5q12→q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting

✍ Nordgren, Ann; Arver, Stefan; Kvist, Ulrik; Carter, Nigel; Blennow, Elisabeth 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB

We report on a patient with azoospermia, mild mental retardation, and minor physical anomalies. Chromosome analysis demonstrated the presence of additional material on the long arm of one chromosome 13. Forward chromosome painting using chromosome-specific libraries showed an insertion of material f

Constitutional del(19)(q12q13.1) in a th

Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems

✍ Kulharya, Anita S.; Michaelis, Ron C.; Norris, Karen S.; Taylor, Harold A.; Garc 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB

We present the clinical, cytogenetic, and molecular studies on a constitutional deletion of 19q ascertained prenatally due to decreased fetal activity and IUGR. Chromosome analysis by GTG banding on amniocytes suggested a del(19)(q13.1q13.3), but the analysis of microsatellites by PCR demonstrated t

Partial duplication of 4q12q13 leads to

Partial duplication of 4q12q13 leads to a mild phenotype

✍ Shashi, Vandana; Berry, Margaret N.; Santos, C�sar; Pettenati, Mark J. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the proxima

12 Before 13

✍ Greenwald, Lisa 📂 Fiction 📅 2018 🏛 HarperCollins 🌐 English ⚖ 255 KB

Fans of Lauren Myracle and Wendy Mass will adore the second book in this hilarious series about two BFFs who master middle school with a list of twelve goals they MUST achieve before their thirteenth birthday. Inspired by the success of their first birthday bucket list, Ari and her BFF Kaylan set tw

FG syndrome: Report of three new familie

FG syndrome: Report of three new families with linkage to xq12-q22.1

✍ Graham, John M.; Tackels, Darci; Dibbern, Kurt; Superneau, Duane; Rogers, Curtis 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 1 views

FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five related males with mental retardation, disproportionately large heads, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was noted in at least