Jacobsen syndrome: Chromosome deletion at llq23

to related objects

Abstract: A male infant delivered at term to unrelated parents was found to have multiple dysmorphic facial characteristics, abnormal head shape, anemia, thrombocytopenia, a prominent holosystolic heart murmur with multiple cardiac defects, hypotonia, and was small for his gestational age. Karotype revealed a de novo deletion of the long arm of chromosome 11, del (11)(q23), which has been previously described as Jacobsen syndrome. Recent studies have demonstrated that a folate-sensitive fragile site at 11q, band 23, (1lq23) may be responsible for this deletion and possibly other syndromes as well.

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: Jacobsen syndrome: Chromosome deletion at llq23 ; volume:98 ; number:10 ; year:2023 ; pages:551-554 ; extent:4
Journal of osteopathic medicine ; 98, Heft 10 (2023), 551-554 (gesamt 4)

Creator: Clang, Daniel R.
LaBaere II, Richard J.

DOI: 10.1515/jom-1998-0102

URN: urn:nbn:de:101:1-2023041314084004413068

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:56 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Clang, Daniel R.
LaBaere II, Richard J.

Other Objects (12)

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Partial deletion of distal long arm encompassing Jacobsen Syndrome

Partial deletion of distal long arm encompassing Jacobsen Syndrome

Neuro-developmental syndrome at the border between CANPMR syndrome and chromosome 1p32-p31 deletion syndrome

Hochschulschrift

Neuro-developmental syndrome at the border between CANPMR syndrome and chromosome 1p32-p31 deletion syndrome

Klinefelter syndrome with long-arm X-chromosome deletion

Klinefelter syndrome with long-arm X-chromosome deletion

Jacobsen syndrome

Jacobsen syndrome

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome

Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Deletion 22q13.3 syndrome

Deletion 22q13.3 syndrome

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Partial deletion of distal long arm encompassing Jacobsen Syndrome

Partial deletion of distal long arm encompassing Jacobsen Syndrome

Neuro-developmental syndrome at the border between CANPMR syndrome and chromosome 1p32-p31 deletion syndrome

Hochschulschrift

Neuro-developmental syndrome at the border between CANPMR syndrome and chromosome 1p32-p31 deletion syndrome

Klinefelter syndrome with long-arm X-chromosome deletion

Klinefelter syndrome with long-arm X-chromosome deletion

Jacobsen syndrome

Jacobsen syndrome

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome

Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Deletion 22q13.3 syndrome

Deletion 22q13.3 syndrome

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Partial deletion of distal long arm encompassing Jacobsen Syndrome

Partial deletion of distal long arm encompassing Jacobsen Syndrome

Neuro-developmental syndrome at the border between CANPMR syndrome and chromosome 1p32-p31 deletion syndrome

Hochschulschrift

Neuro-developmental syndrome at the border between CANPMR syndrome and chromosome 1p32-p31 deletion syndrome

Klinefelter syndrome with long-arm X-chromosome deletion

Klinefelter syndrome with long-arm X-chromosome deletion

Jacobsen syndrome

Jacobsen syndrome

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome

Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Deletion 22q13.3 syndrome

Deletion 22q13.3 syndrome

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.