Two unrelated cases of single maxillary central incisor with 7q terminal deletion

Masuno, Mitsuo; Fukushima, Yoshimitsu; Sugio, Yoshitsugu; Ikeda, Masakazu; Kuroki, Yoshikazu

doi:10.1007/bf01883753

Cited by 40 publications

(27 citation statements)

References 21 publications

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“…We compared the clinical findings of HPE and Currarino syndrome from our patients with pure 7q36 deletions (Patients 1 and 2) and unbalanced translocations involving 7q36 deletions (Patients 3 and 4) to previously reported patients with pure 7q36 deletions [Masuno et al, 1990 (Patients 1 and 2); Benzacken et al, 1997 (Patient 1); Frints et al, 1998a,b (Patients 1 and 3); Rodríguez et al, 2002] (Table I). We found that Patient 1 reported by Frints et al [1998a] and the patient described by Frints et al [1998b] are identical.…”

Section: Discussionmentioning

confidence: 96%

“…In most cases, the deletion involved region 7q32-qter. So far only six patients with a de novo 7q36-qter deletion have been reported [Benzacken et al, 1997 (Patient 1);Frints et al, 1998a (Patients 1 and 3); Masuno et al, 1990 (Patients 1 and 2); Rodríguez et al, 2002]. They all manifested microsigns of HPE, e.g., three individuals had a single central maxillary incisor.…”

Section: Introductionmentioning

confidence: 95%

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Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

Horn

Tönnies

Neitzel

et al. 2004

American J of Med Genetics Pt A

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We report clinical, cytogenetic, and molecular cytogenetic studies on four patients with subtle or submicroscopic 7q36 deletions either of de novo origin or resulting from a cryptic parental translocation. Fluorescence in situ hybridization (FISH) studies indicated that in all four patients, the Sonic Hedgehog gene (SHH) and the homeobox gene HLXB9, among others, are comprised in the deletions. Besides mental retardation and short stature, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the Currarino syndrome. Patient 1 had a de novo 7q36.1-qter deletion and showed microcephaly, ptosis, sacral agenesis, tethered cord, but no structural brain anomaly. Patient 2 had a submicroscopic de novo 7q36 deletion detected by FISH, and showed facial and cerebral microsigns of the HPE spectrum. Patient 3 had a 7q36 deletion found by subtelomere FISH testing that was the unbalanced product of a subtle maternal 7q;10q translocation. She presented facial and ocular microsigns, but no structural abnormality of the brain. Patient 4 showed no specific syndromal pattern and was found to have a cryptic unbalanced de novo translocation of the terminal parts of chromosomes 7q and 9p by subtelomere FISH. Patients 2, 3, and 4 represent the first report of a de novo submicroscopic 7q36 deletion, the second report of a familial subtle translocation of 7q36, and the first report of an unbalanced de novo submicroscopic translocation of 7q36, respectively. Our results stress the importance of 7q36 deletion studies by FISH in patients with microsigns of the HPE spectrum.

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Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 95%

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

Horn

Tönnies

Neitzel

et al. 2004

American J of Med Genetics Pt A

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“…No seizure details were reported in two cases (98). EEG studies were mentioned in six cases with seizures; hypsarrhythmia was found in three (93,100), rolandic spikes in one (99), one with multifocal spikes (94), and one was normal (96).…”

Section: Deletion Of the Long Arm Of Chromosomementioning

confidence: 98%

“…Seizures were described in 14 cases. No specific common region stood out; seizures were described in deletions of various sizes, extending from the pericentromeric region to the terminal region (91)(92)(93)(94)(95)(96)(97)(98)(99).…”

Section: Deletion Of the Long Arm Of Chromosomementioning

confidence: 99%

“…Seizure onset ranged from the neonatal period to 7 years (91,97). Febrile convulsions alone occurred in four cases (91,92,96,98), generalized seizures in three (94,95,97), myoclonic seizures in one (93), and a combination of afebrile and febrile seizures in one case (93). Two cases of Williams syndrome del(7)(q11.23), have been described with infantile spasms (100), but seizures are rare in this disorder.…”

Section: Deletion Of the Long Arm Of Chromosomementioning

confidence: 99%

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Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

Frints¹,

Schoenmakers²,

Smeets³

et al. 1998

Am. J. Med. Genet.

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We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a magnetic resonance imaging scan of the brain. Extensive fluorescence in situ hybridization analysis showed that the HPE3 critical gene region, inclusive Sonic hedgehog (SHH), En2 (HOX1), and HTR5A, was deleted. A review of 33 other patients with a de novo terminal 7q deletion and the different types of HPE manifestations within these patients will be presented.

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Two unrelated cases of single maxillary central incisor with 7q terminal deletion

Cited by 40 publications

References 21 publications

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

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